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2. Mapping of the mucolipidosis type IV gene to chromosome 19p and definition of founder haplotypes

Author

Slaugenhaupt, Susan A., Acierno, James S., Jr., Helbling, Lisa Anne, Bove, Catherine, Goldin, Ehud, Bach, Gideon, Schiffmann, Raphael, and Gusella, James F.

Subjects
Genetic disorders -- Research, Chromosome mapping -- Usage, Lysosomes -- Abnormalities, Neurology -- Genetic aspects, Ashkenazim -- Diseases, Familial diseases -- Genetic aspects, Biological sciences
Abstract

The mucolipidosis type IV (MLIV) gene has been mapped to chromosome 19p using linkage analysis with 15 markers in 13 families, and this fact, with definition of founder haplotypes, is discussed. MLIV is a rare autosomal recessive disease and a lysosomal storage disorder involving severe neurologic and ophthalmologic abnormalities. The majority of those diagnosed with it so far are of Ashkenazi Jewish descent and genetic prenatal diagnosis will now be possible in affected families.

Published
1999

4. A novel moesin-, ezrin-, radixin-like gene is a candidate for the neurofibromatosis 2 tumor suppressor

Author

Trofatter, James A., MacCollin, Mia M., Rutter, Joni L., Murrell, Jill R., Duyao, Mabel P., Parry, Dilys M., Eldtidge, Roswell, Kley, Nikolai, Menon, Anil G., Pulaski, karen, Haase, Volker H., Ambrose, Christine M., Munroe, David, Bove, Catherine, Haines, Jonathan L., Martuza, Robert L., MacDonald, Marcy E., Seizinger, Bernd R., Short, M. Priscilla, Buckler, Alan J., and Gusella, James F.

Subjects
Neurofibromatosis -- Genetic aspects, Tumor suppressor genes -- Identification and classification, Biological sciences
Abstract

The identification of a candidate gene for neurofibromatosis 2 (NF2), a dominantly inherited disorder characterized by the occurrence of bilateral schwannomas and other central nervous system tumors such as multiple meningiomas, is reported. Previous studies have suggested the inactivation of a tumor suppressor gene in choromosome 22q12 as a potential cause of the disorder. The candidate NF2 gene encodes a 587-amino acid protein which is related to the membrane-organizing extension spike protein-ezrin-radixin family of proteins that link cytoskeletal proteins with proteins in the cell membrane.

Published
1993

7. Res judicata, revisited.

Author

Bove, Catherine M.

Subjects
Workers' compensation -- Cases, Res judicata -- Cases, Pike v. City of Wyoming (433 N.W.2d 768 (Mich. 1988))
Published
1989

8. A Physical and Transcript Map of the MCOLN1 Gene Region on Human Chromosome 19p13.3–p13.2

Author

Acierno, James S., primary, Kennedy, John C., additional, Falardeau, John L., additional, Leyne, Maire, additional, Bromley, Matthew C., additional, Colman, Matthew W., additional, Sun, Mei, additional, Bove, Catherine, additional, Ashworth, Linda K., additional, Chadwick, Lisa H., additional, Schiripo, Taryn, additional, Ma, Sue, additional, Goldin, Ehud, additional, Schiffmann, Raphael, additional, and Slaugenhaupt, Susan A., additional

Published
2001
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12. A Physical and Transcript Map of the MCOLN1Gene Region on Human Chromosome 19p13.3–p13.2

Author

Acierno, James S., Kennedy, John C., Falardeau, John L., Leyne, Maire, Bromley, Matthew C., Colman, Matthew W., Sun, Mei, Bove, Catherine, Ashworth, Linda K., Chadwick, Lisa H., Schiripo, Taryn, Ma, Sue, Goldin, Ehud, Schiffmann, Raphael, and Slaugenhaupt, Susan A.

Abstract

Mutations in MCOLN1have been found to cause mucolipidosis type IV (MLIV; MIM 252650), a rare autosomal recessive lysosomal storage disorder found primarily in the Ashkenazi Jewish population. As a part of the successful cloning of MCOLN1,we constructed a 1.4-Mb physical map containing 14 BACs and 4 cosmids that encompasses the region surrounding MCOLN1on human chromosome 19p13.3–p13.2—a region to which linkage or association has been reported for multiple diseases. Here we detail the precise physical mapping of 28 expressed sequence tags that represent unique UniGene clusters, of which 15 are known genes. We present a detailed transcript map of the MCOLN1gene region that includes the genes KIAA0521, neuropathy target esterase (NTE), a novel zinc finger gene, and two novel transcripts in addition to MCOLN1.We also report the identification of eight new polymorphic markers between D19S406and D19S912,which allowed us to pinpoint the location of MCOLN1by haplotype analysis and which will facilitate future fine-mapping in this region. Additionally, we briefly describe the correlation between the observed haplotypes and the mutations found in MCOLN1.The complete 14-marker haplotypes of non-Jewish disease chromosomes, which are crucial for the genetic diagnosis of MLIV in the non-Jewish population, are presented here for the first time.

Published
2001
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14. Erlenmeyer flasking of a child's bones: a diagnostic puzzle.

Author

Mankin HJ, Sims KB, and Bove CM

Subjects
Child, Diagnosis, Differential, Femur pathology, Gaucher Disease diagnosis, Humans, Male, Osteochondrodysplasias diagnosis, Radiography, Tibia pathology, Femur diagnostic imaging, Osteochondrodysplasias diagnostic imaging, Tibia diagnostic imaging
Published
2005

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