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1. X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes

Author

Hu, H, Haas, S A, Chelly, J, Van Esch, H, Raynaud, M, de Brouwer, A PM, Weinert, S, Froyen, G, Frints, S GM, Laumonnier, F, Zemojtel, T, Love, M I, Richard, H, Emde, A-K, Bienek, M, Jensen, C, Hambrock, M, Fischer, U, Langnick, C, Feldkamp, M, Wissink-Lindhout, W, Lebrun, N, Castelnau, L, Rucci, J, Montjean, R, Dorseuil, O, Billuart, P, Stuhlmann, T, Shaw, M, Corbett, M A, Gardner, A, Willis-Owen, S, Tan, C, Friend, K L, Belet, S, van Roozendaal, K EP, Jimenez-Pocquet, M, Moizard, M-P, Ronce, N, Sun, R, OʼKeeffe, S, Chenna, R, van Bömmel, A, Göke, J, Hackett, A, Field, M, Christie, L, Boyle, J, Haan, E, Nelson, J, Turner, G, Baynam, G, Gillessen-Kaesbach, G, Müller, U, Steinberger, D, Budny, B, Badura-Stronka, M, Latos-Bieleńska, A, Ousager, L B, Wieacker, P, Criado, G Rodríguez, Bondeson, M-L, Annerén, G, Dufke, A, Cohen, M, Van Maldergem, L, Vincent-Delorme, C, Echenne, B, Simon-Bouy, B, Kleefstra, T, Willemsen, M, Fryns, J-P, Devriendt, K, Ullmann, R, Vingron, M, Wrogemann, K, Wienker, T F, Tzschach, A, van Bokhoven, H, Gecz, J, Jentsch, T J, Chen, W, Ropers, H-H, and Kalscheuer, V M

Published
2016
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2. Microsatellites and disease: A new paradigm

Author

Wrogemann, K., Biancalana, V., Devys, D., Imbert, G., Trottier, Y., Mandel, J.-L., Byrnes, Christopher I., editor, Pena, S. D. J., editor, Chakraborty, R., editor, Epplen, J. T., editor, and Jeffreys, Alec J., editor

Published
1993
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6. X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes

Author

Hu, H., Haas, S. A., Chelly, J., Van Esch, H., Raynaud, M., de Brouwer, A. P. M., Weinert, S., Froyen, G., Frints, S. G. M., Laumonnier, F., Zemojtel, T., Love, M. I., Richard, H., Emde, A-K, Bienek, M., Jensen, C., Hambrock, M., Fischer, U., Langnick, C., Feldkamp, M., Wissink-Lindhout, W., Lebrun, N., Castelnau, L., Rucci, J., Montjean, R., Dorseuil, O., Billuart, P., Stuhlmann, T., Shaw, M., Corbett, M. A., Gardner, A., Willis-Owen, S., Tan, C., Friend, K. L., Belet, S., van Roozendaal, K. E. P., Jimenez-Pocquet, M., Moizard, M-P, Ronce, N., Sun, R., O'Keeffe, S., Chenna, R., Van Boemmel, A., Goeke, J., Hackett, A., Field, M., Christie, L., Boyle, J., Haan, E., Nelson, J., Turner, G., Baynam, G., Gillessen-Kaesbach, G., Mueller, U., Steinberger, D., Budny, B., Badura-Stronka, M., Latos-Bielenska, A., Ousager, L. B., Wieacker, P., Criado, G. Rodriguez, Bondeson, Marie-Louise, Annerén, Göran, Dufke, A., Cohen, M., Van Maldergem, L., Vincent-Delorme, C., Echenne, B., Simon-Bouy, B., Kleefstra, T., Willemsen, M., Fryns, J-P, Devriendt, K., Ullmann, R., Vingron, M., Wrogemann, K., Wienker, T. F., Tzschach, A., van Bokhoven, H., Gecz, J., Jentsch, T. J., Chen, W., Ropers, H-H, Kalscheuer, V. M., Hu, H., Haas, S. A., Chelly, J., Van Esch, H., Raynaud, M., de Brouwer, A. P. M., Weinert, S., Froyen, G., Frints, S. G. M., Laumonnier, F., Zemojtel, T., Love, M. I., Richard, H., Emde, A-K, Bienek, M., Jensen, C., Hambrock, M., Fischer, U., Langnick, C., Feldkamp, M., Wissink-Lindhout, W., Lebrun, N., Castelnau, L., Rucci, J., Montjean, R., Dorseuil, O., Billuart, P., Stuhlmann, T., Shaw, M., Corbett, M. A., Gardner, A., Willis-Owen, S., Tan, C., Friend, K. L., Belet, S., van Roozendaal, K. E. P., Jimenez-Pocquet, M., Moizard, M-P, Ronce, N., Sun, R., O'Keeffe, S., Chenna, R., Van Boemmel, A., Goeke, J., Hackett, A., Field, M., Christie, L., Boyle, J., Haan, E., Nelson, J., Turner, G., Baynam, G., Gillessen-Kaesbach, G., Mueller, U., Steinberger, D., Budny, B., Badura-Stronka, M., Latos-Bielenska, A., Ousager, L. B., Wieacker, P., Criado, G. Rodriguez, Bondeson, Marie-Louise, Annerén, Göran, Dufke, A., Cohen, M., Van Maldergem, L., Vincent-Delorme, C., Echenne, B., Simon-Bouy, B., Kleefstra, T., Willemsen, M., Fryns, J-P, Devriendt, K., Ullmann, R., Vingron, M., Wrogemann, K., Wienker, T. F., Tzschach, A., van Bokhoven, H., Gecz, J., Jentsch, T. J., Chen, W., Ropers, H-H, and Kalscheuer, V. M.

Abstract

X-linked intellectual disability (XLID) is a clinically and genetically heterogeneous disorder. During the past two decades in excess of 100 X-chromosome ID genes have been identified. Yet, a large number of families mapping to the X-chromosome remained unresolved suggesting that more XLID genes or loci are yet to be identified. Here, we have investigated 405 unresolved families with XLID. We employed massively parallel sequencing of all X-chromosome exons in the index males. The majority of these males were previously tested negative for copy number variations and for mutations in a subset of known XLID genes by Sanger sequencing. In total, 745 X-chromosomal genes were screened. After stringent filtering, a total of 1297 non-recurrent exonic variants remained for prioritization. Co-segregation analysis of potential clinically relevant changes revealed that 80 families (20%) carried pathogenic variants in established XLID genes. In 19 families, we detected likely causative protein truncating and missense variants in 7 novel and validated XLID genes (CLCN4, CNKSR2, FRMPD4, KLHL15, LAS1L, RLIM and USP27X) and potentially deleterious variants in 2 novel candidate XLID genes (CDK16 and TAF1). We show that the CLCN4 and CNKSR2 variants impair protein functions as indicated by electrophysiological studies and altered differentiation of cultured primary neurons from Clcn4(-/-) mice or after mRNA knock-down. The newly identified and candidate XLID proteins belong to pathways and networks with established roles in cognitive function and intellectual disability in particular. We suggest that systematic sequencing of all X-chromosomal genes in a cohort of patients with genetic evidence for X-chromosome locus involvement may resolve up to 58% of Fragile X-negative cases.

Published
2016
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11. X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes

Author

Hu, H, primary, Haas, S A, additional, Chelly, J, additional, Van Esch, H, additional, Raynaud, M, additional, de Brouwer, A P M, additional, Weinert, S, additional, Froyen, G, additional, Frints, S G M, additional, Laumonnier, F, additional, Zemojtel, T, additional, Love, M I, additional, Richard, H, additional, Emde, A-K, additional, Bienek, M, additional, Jensen, C, additional, Hambrock, M, additional, Fischer, U, additional, Langnick, C, additional, Feldkamp, M, additional, Wissink-Lindhout, W, additional, Lebrun, N, additional, Castelnau, L, additional, Rucci, J, additional, Montjean, R, additional, Dorseuil, O, additional, Billuart, P, additional, Stuhlmann, T, additional, Shaw, M, additional, Corbett, M A, additional, Gardner, A, additional, Willis-Owen, S, additional, Tan, C, additional, Friend, K L, additional, Belet, S, additional, van Roozendaal, K E P, additional, Jimenez-Pocquet, M, additional, Moizard, M-P, additional, Ronce, N, additional, Sun, R, additional, O'Keeffe, S, additional, Chenna, R, additional, van Bömmel, A, additional, Göke, J, additional, Hackett, A, additional, Field, M, additional, Christie, L, additional, Boyle, J, additional, Haan, E, additional, Nelson, J, additional, Turner, G, additional, Baynam, G, additional, Gillessen-Kaesbach, G, additional, Müller, U, additional, Steinberger, D, additional, Budny, B, additional, Badura-Stronka, M, additional, Latos-Bieleńska, A, additional, Ousager, L B, additional, Wieacker, P, additional, Rodríguez Criado, G, additional, Bondeson, M-L, additional, Annerén, G, additional, Dufke, A, additional, Cohen, M, additional, Van Maldergem, L, additional, Vincent-Delorme, C, additional, Echenne, B, additional, Simon-Bouy, B, additional, Kleefstra, T, additional, Willemsen, M, additional, Fryns, J-P, additional, Devriendt, K, additional, Ullmann, R, additional, Vingron, M, additional, Wrogemann, K, additional, Wienker, T F, additional, Tzschach, A, additional, van Bokhoven, H, additional, Gecz, J, additional, Jentsch, T J, additional, Chen, W, additional, Ropers, H-H, additional, and Kalscheuer, V M, additional

Published
2015
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12. Erratum to: Mutation screening in 86 known X-linked mental retardation genes by droplet-based multiplex PCR and massive parallel sequencing.

Author

Hu, H., Wrogemann, K., Kalscheuer, V.M.M., Tzschach, A., Richard, H., Haas, S.A., Menzel, C., Bienek, M., Froyen, G., Raynaud, M., Bokhoven, J.H.L.M. van, Chelly, J., Ropers, H., Chen, W., Hu, H., Wrogemann, K., Kalscheuer, V.M.M., Tzschach, A., Richard, H., Haas, S.A., Menzel, C., Bienek, M., Froyen, G., Raynaud, M., Bokhoven, J.H.L.M. van, Chelly, J., Ropers, H., and Chen, W.

Abstract

1 december 2009, Item does not contain fulltext, [This corrects the article DOI: 10.1007/s11568-010-9137-y.].

Published
2009

13. Recombinations in individuals homozygous by descent localize the Friedreich ataxia locus in a cloned 450-kb interval

Author

Rodius F, Duclos F, Wrogemann K, Le Paslier D, Ougen P, Billault A, Belal S, Musenger C, Alexis Brice, and Dürr A

Subjects
Genetic Markers, Male, Recombination, Genetic, Polymorphism, Genetic, Tunisia, Base Sequence, Genetic Linkage, Molecular Sequence Data, Restriction Mapping, Chromosome Mapping, Original Articles, DNA, Satellite, Louisiana, Haplotypes, Friedreich Ataxia, Humans, Female, Child, Chromosomes, Human, Pair 9, Chromosomes, Artificial, Yeast, Reunion
Abstract

The locus for Friedreich ataxia (FRDA), a severe neurodegenerative disease, is tightly linked to markers D9S5 and D9S15, and analysis of rare recombination events has suggested the order cen–FRDA–D9S5–D9S15–qter. We report here the construction of a YAC contig extending 800 kb centromeric to D9S5 and the isolation of five new microsatellite markers from this region. In order to map these markers with respect to the FRDA locus, all within a 1-cM confidence interval, we sought to increase the genetic information of available FRDA families by considering homozygosity by descent and association with founder haplotypes in isolated populations. This approach allowed us to identify one phase-known recombination and one probable historic recombination on haplotypes from Réunion Island patients, both of which place three of the five markers proximal to FRDA. This represents the first identification of close FRDA flanking markers on the centromeric side. The two other markers allowed us to narrow the breakpoint of a previously identified distal recombination that is >180 kb from D9S5 (26P). Taken together, the results place the FRDA locus in a 450-kb interval, which is small enough for direct search of candidate genes. A detailed rare cutter restriction map and a cosmid contig covering this interval were constructed and should facilitate the search of genes in this region.

Published
1994

19. Identical Mutation in Patients with Limb Girdle Muscular Dystrophy Type 2B Or Miyoshi Myopathy Suggests a Role for Modifier Gene(s)

Author

Weiler, T., primary, Bashir, R., additional, Anderson, L. V. B., additional, Davison, K., additional, Moss, J. A., additional, Britton, S., additional, Nylen, E., additional, Keers, S., additional, Vafiadaki, E., additional, Greenberg, C. R., additional, Bushby, K. M. D., additional, and Wrogemann, K., additional

Published
1999
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27. Searching for Molecular Abnormalities in Genetic Diseases by the Use of a Double Labeling Technique II Deficiency of a Basic Protein in Fibroblasts of Patients with Pompe's Disease

Author

PENA, S. D. J., QUILLIAM, N. M., HAMERTON, J. L., and WROGEMANN, K.

Abstract

We used a double labeling technique to search for molecular defects in two fibroblast strains obtained from patients with Pompe's disease. Analysis of the double labeled subcellular fractions by sodium dodecyl sulfate (SDS) electrophoresis did not reveal any abnormalities except in the “mitochondrial-lysosomal” fraction. In this fraction ratio deviations indicated that in Pompe's disease there was a significant decrease in counts of a protein with molecular weight of about 29,000. After solubilization by freeze-thawing this protein was shown to have an isoelectric point of 7.9 in contrast to the α-glucosidase which focused at about pH 4.7. Two-stage gel studies demonstrated an estimated 90 reduction of this protein in Pompe's disease. Two-stage studies of acid α-glucosidase did not show any abnormal ratios of leucine incorporation. Similar although quantitatively less pronounced results were obtained in the study of skin fibroblasts from a patient with adult glycogen storage disease type II.

Published
1978

28. Searching for Molecular Abnormalities in Genetic Diseases by the Use of a Double Labeling Technique I Rationale Techniques and Initial Evaluation

Author

PENA, S. D. J. and WROGEMANN, K.

Abstract

To meet the challenge of unravelling the molecular pathology of the ever expanding number of known genetic diseases in man, new efficient investigative techniques have to be designed. A procedure is presented for detection of protein defects in genetic diseases on the basis of structural rather than functional alterations. The technique is based on double labeling of normal and diseased fibroblast proteins followed by extensive fractionation and analysis. The rationale, advantages, and limitations of the procedure are discussed and the technical aspects of its use explained.

Published
1978

29. PRENATAL DIAGNOSIS AND CARRIER DETECTION OF DUCHENNE MUSCULAR DYSTROPHY WITH CLOSELY LINKED RFLPs

Author

Bakker, E, Goor, N, Wrogemann, K, Kunkel, L.M, Fenton, W.A, Majoor-Krakauer, D, Jahoda, M.G.J, Ommen, G.J.B.Van, Hofker, M.H, Mandel, J.L, Davies, K.E, Willard, H.F, Sandkuyl, L, Essen, A.J.V, Sachs, E.S, and Pearson, P.L

Abstract

By the use of a series of closely linked DNA probes detecting restriction fragment length polymorphisms (RFLPs) distributed over the short arm of the X chromosome, a double crossover was detected in a Duchenne muscular dystrophy carrier and an affected male fetus was diagnosed at 12 weeks of gestation, with a probable accuracy of more than 99·0%. A new mutation was identified in another family with the same degree of reliability; three females in this family were thus deemed not to be DMD carriers. The eleven RFLP-markers presently available on the short arm of the X chromosome are useful in the diagnosis of DMD since they bridge the Duchenne locus at genetic distances varying between 3 and 20 cmo. Moreover, recombination within the set of markers provides an independent way of regionally mapping these probes relative to each other along the short arm of the X chromosome.

Published
1985
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30. Concanavalin A-induced chemiluminescence in rat thymus lymphocytes. Its origin and role in mitogenesis

Author

Hume, D A, Wrogemann, K, Ferber, E, Kolbuch-Braddon, M E, Taylor, R M, Fischer, H, and Weidemann, M J

Abstract

1. The luminol-dependent chemiluminescence of rat thymocytes responding to concanavalin A can be resolved into glucose-dependent and glucose-independent portions. 2. The glucose-dependent portion, supported by D-glucose and D-mannose oxidation, is inhibited by catalase (200 microgram/ml), amobarbital (1 mM) and hexose analogues that block D-glucose uptake. Thus concanavalin A may activate, transiently, an NAD(P)H oxidase that utilizes reducing equivalents derived from the oxidation of exogenous glucose to give dismutation products of O2- (including H2O2) as its major products. 3. The glucose-independent portion is inhibited by eicosa-5,8,11,14-tetraynoic acid but not by indomethacin. It may therefore be associated with the conversion of hydroperoxy intermediates of arachidonic acid metabolism to hydroxy products by the lipoxygenase pathway. 4. Preincubation of thymocytes for 18 h in serum-free medium enhances the subsequent chemiluminescent response to concanavalin A severalfold and evokes the response at a lower threshold concentration. The incorporation of [3H]thymidine by preincubated cells is similarly enhanced at low doses of concanavalin A, whereas the response to optimal doses is unaltered. 5. Catalase does not inhibit the enhanced incorporation of [3H]thymidine obtained in response to concanavalin A, but instead amplifies the response to low doses in the same manner as preincubation.

Published
1981
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31. The molecular basis for Duchenne versus Becker muscular dystrophy: correlation of severity with type of deletion

Author

Koenig, M., Beggs, A. H., Moyer, M., Scherpf, S., Heindrich, K., Bettecken, T., Meng, G., Müller, C. R., Lindlöf, M., Kaariainen, H., La Chapelle, A., Kiuru, A., Savontaus, M. -L, Gilgenkrantz, H., Récan, D., Chelly, J., Kaplan, J. -C, Angela Elvira Covone, Archidiacono, N., Romeo, G., Liechti-Gailati, S., Schneider, V., Braga, S., Moser, H., Darras, B. T., Murphy, R., Francke, U., Chen, J. D., Morgan, G., Denton, M., Greenberg, C. R., Wrogemann, K., Blonden, L. A. J., Paassen, H. M. B., Ommen, G. J. B., and Kunkel, L. M.

Subjects
musculoskeletal diseases, congenital, hereditary, and neonatal diseases and abnormalities, Reading Frames, Adolescent, Transcription, Genetic, Restriction Mapping, Deoxyribonuclease HindIII, Exons, Original Articles, musculoskeletal system, Muscular Dystrophies, Dystrophin, Mutation, Humans, Chromosome Deletion, Cloning, Molecular, Child, DNA Probes
Abstract

About 60% of both Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) is due to deletions of the dystrophin gene. For cases with a deletion mutation, the “reading frame” hypothesis predicts that BMD patients produce a semifunctional, internally deleted dystrophin protein, whereas DMD patients produce a severely truncated protein that would be unstable. To test the validity of this theory, we analyzed 258 independent deletions at the DMD/BMD locus. The correlation between phenotype and type of deletion mutation is in agreement with the “reading frame” theory in 92% of cases and is of diagnostic and prognostic significance. The distribution and frequency of deletions spanning the entire locus suggests that many “in-frame” deletions of the dystrophin gene are not detected because the individuals bearing them are either asymptomatic or exhibit non-DMD/non-BMD clinical features.

Published
1989

33. DNA studies in a family with Duchenne muscular dystrophy and a deletion at Xp21

Author

Greenberg, C R, Hamerton, J L, Nigli, M, and Wrogemann, K

Subjects
Genetic Markers, Male, X Chromosome, Adolescent, Chromosome Mapping, Nucleic Acid Hybridization, DNA, Muscular Dystrophies, Chromosome Banding, Pedigree, Karyotyping, Humans, Female, Chromosome Deletion, Child, Research Article
Abstract

We have performed Southern blot analysis on a large, four-generation kindred with Duchenne muscular dystrophy (DMD). Probes 754 (DXS 84), pERT87-1, pERT87-8, pERT87-15 (DXS164), and pXJ-1.1 did not hybridize to digested genomic DNA of affected males. Obligate-carrier mothers and unaffected brothers showed signals of a single X-chromosome copy intensity, and suspected noncarrier sisters demonstrated either a single band of two-copy intensity or informative polymorphisms. Uniform hybridization was seen with probes C7 (DXS28) and D2 (DXS43), which map distal to the DMD locus, and with OTC, which maps proximally. This deletion was present in six affected individuals and has been transmitted through 3 generations to date. On high-resolution chromosome analysis, a deletion within band Xp21 was consistently observed in one affected male studied and in one of the two X chromosomes in obligate carriers. This large molecular and cytogenetically visible deletion in affected DMD individuals without glycerol kinase deficiency, chronic granulomatous disease, retinitis pigmentosa (RP), or ornithine transcarbamylase deficiency is a very rare finding and should prove useful in specifically cloning additional probes within and flanking the DMD locus.

Published
1987

36. Microsatellites and disease: a new paradigm

Author

Wrogemann, K., Biancalana, V., Didier Devys, Imbert, G., Trottier, Y., and Mandel, J. L.

Subjects
Male, Muscular Atrophy, Spinal, Base Sequence, Oligodeoxyribonucleotides, Fragile X Syndrome, DNA Mutational Analysis, Genetic Diseases, Inborn, Humans, Myotonic Dystrophy, Female, DNA, Satellite, DNA Fingerprinting, Repetitive Sequences, Nucleic Acid

38. Limb-girdle muscular dystrophy and Miyoshi myopathy in an aboriginal Canadian kindred map to LGMD2B and segregate with the same haplotype

Author

Tracey Weiler, Cr, Greenberg, Nylen E, Halliday W, Morgan K, Eggertson D, and Wrogemann K

Subjects
Adult, Male, Canada, Adolescent, Genetic Linkage, Haploidy, Muscular Dystrophies, Pedigree, Chromosomes, Human, Pair 2, Humans, Female, Age of Onset, American Indian or Alaska Native, Research Article, Microsatellite Repeats
Abstract

We report the results of our investigations of a large, inbred, aboriginal Canadian kindred with nine muscular dystrophy patients. The ancestry of all but two of the carrier parents could be traced to a founder couple, seven generations back. Seven patients presented with proximal myopathy consistent with limb girdle-type muscular dystrophy (LGMD), whereas two patients manifested predominantly distal wasting and weakness consistent with Miyoshi myopathy (distal autosomal recessive muscular dystrophy) (MM). Age at onset of symptoms, degree of creatine kinase elevation, and muscle histology were similar in both phenotypes. Segregation of LGMD/MM is consistent with autosomal recessive inheritance, and the putative locus is significantly linked (LOD scores >3.0) to six marker loci that span the region of the LGMD2B locus on chromosome 2p. Our initial hypothesis that the affected patients would all be homozygous by descent for microsatellite markers surrounding the disease locus was rejected. Rather, two different core haplotypes, encompassing a 4-cM region spanned by D2S291-D2S145-D2S286, segregated with the disease, indicating that there are two mutant alleles of independent origin in this kindred. There was no association, however, between the two different haplotypes and clinical variability; they do not distinguish between the LGMD and MM phenotypes. Thus, we conclude that LGMD and MM in our population are caused by the same mutation in LGMD2B and that additional factors, both genetic and nongenetic, must contribute to the clinical phenotype.

42. Regional localization of 18 human X-linked DNA sequences

Author

Riddell, D.C., primary, Wang, H.S., additional, Beckett, J., additional, Chan, A., additional, Holden, J.J.A., additional, Mulligan, L.M., additional, Phillips, M.A., additional, Simpson, N.E., additional, Wrogemann, K., additional, Hamerton, J.L., additional, and White, B.N., additional

Published
1986
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