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3 results on '"G. Pi-Castán"'

1. Clinical, molecular and biochemical characterization of nine Spanish families with Conradi-Hünermann-Happle syndrome: new insights into X-linked dominant chondrodysplasia punctata with a comprehensive review of the literature

Author

G. Pi-Castán, P. Unamuno, M. Artigas, M. Tejedor, E.M. Sánchez-Tapia, Antonio Torrelo, J. Garcia-Dorado, Jordi Rosell, T. Vendrell, Rogelio González-Sarmiento, Angela Hernández-Martín, M. Fernández-Burriel, Juan Luis García, Vicente García-Patos, M.T. Garcia-Silva, Francisco Martínez, A. Virós, S. Ciria, Javier Cañueto, E. Martín-Hernández, J. Valero, and M. Girós

Subjects
musculoskeletal diseases, Adult, Chondrodysplasia Punctata, Genotype, DISORDERS, EMOPAMIL-BINDING PROTEIN, DNA Mutational Analysis, Steroid Isomerases, MOSAICISM, Dermatology, Gene mutation, Biology, MOUSE, medicine.disease_cause, CHOLESTEROL-BIOSYNTHESIS, X-inactivation, X Chromosome Inactivation, medicine, Humans, Chondrodysplasia punctata, Gene, Genetics, Mutation, CHROMOSOME INACTIVATION, MUTATIONS, Cholestadienols, Infant, Genetic Diseases, X-Linked, medicine.disease, Phenotype, Cholesterol, Spain, biology.protein, lipids (amino acids, peptides, and proteins), Female, CDPX2
Abstract

[Background]: Conradi-Hünermann-Happle syndrome (CDPX2, OMIM 302960) is an inherited X-linked dominant variant of chondrodysplasia punctata which primarily affects the skin, bones and eyes. CDPX2 results from mutations in EBP (emopamil binding protein), and presents with increased levels of sterol precursors 8(9)-cholestenol and 8-dehydrocholesterol. [Objectives]: To expand the understanding of CDPX2, clinically, biochemically and genetically. [Methods]: We present one of the largest series reported to date, including 13 female patients belonging to nine Spanish families. Patients were studied biochemically using gas chromatography-mass spectrometry, genetically using polymerase chain reaction and in their methylation status using the HUMARA assay. [Results]: In our cases, there was a clear relationship between abnormal sterol profile and the EBP gene mutation. We describe three novel mutations in the EBP gene. EBP mutations were inherited in three out of nine families and were sporadic in the remaining cases. [Conclusions]: No clear genotype-phenotype correlation was found. Patients' biochemical profiles did not reveal a relationship between sterol profiles and severity of disease. A skewed X-chromosome inactivation may explain the clinical phenotype in CDPX2 in some familial cases. © 2011 The Authors. BJD © 2011 British Association of Dermatologists.

Published
2011

2. The role of obesity in the fatal outcome of Schaaf-Yang syndrome: Early onset morbid obesity in a patient with a MAGEL2 mutation.

Author

Kleinendorst L, Pi Castán G, Caro-Llopis A, Boon EMJ, and van Haelst MM

Subjects
Adipose Tissue pathology, Age of Onset, Fatal Outcome, Humans, Infant, Infant, Newborn, Syndrome, Abnormalities, Multiple genetics, Mutation genetics, Obesity, Morbid complications, Obesity, Morbid genetics, Proteins genetics
Abstract

Schaaf-Yang syndrome (SYS) was recently identified as a genetic condition resembling Prader-Willi syndrome. It is caused by mutations on the paternal allele of the MAGEL2 gene, a gene that has been mapped in the Prader-Willi critical region. Here, we present an infant with SYS who sadly died because of the combination of hypotonia, sleep apnea, and obesity. A heterozygous premature stop mutation in MAGEL2 was identified in the patient. The main factors reported in the mortality of SYS are lethal arthrogryposis multiplex congenita, fetal akinesia, and pulmonary problems. Our clinical report indicates that obesity and its complications are an important additional factor in the mortality associated with SYS. Therefore, we advise to strictly monitor weight and intensively treat overweight and obesity in SYS., (© 2018 Wiley Periodicals, Inc.)

Published
2018
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3. Clinical, molecular and biochemical characterization of nine Spanish families with Conradi-Hünermann-Happle syndrome: new insights into X-linked dominant chondrodysplasia punctata with a comprehensive review of the literature.

Author

Cañueto J, Girós M, Ciria S, Pi-Castán G, Artigas M, García-Dorado J, García-Patos V, Virós A, Vendrell T, Torrelo A, Hernández-Martín A, Martín-Hernández E, Garcia-Silva MT, Fernández-Burriel M, Rosell J, Tejedor M, Martínez F, Valero J, García JL, Sánchez-Tapia EM, Unamuno P, and González-Sarmiento R

Subjects
Adult, Cholestadienols metabolism, Cholesterol metabolism, Chondrodysplasia Punctata metabolism, DNA Mutational Analysis methods, Female, Genetic Diseases, X-Linked metabolism, Genotype, Humans, Infant, Phenotype, Spain, Chondrodysplasia Punctata genetics, Genetic Diseases, X-Linked genetics, Mutation genetics, Steroid Isomerases genetics, X Chromosome Inactivation genetics
Abstract

Background: Conradi-Hünermann-Happle syndrome (CDPX2, OMIM 302960) is an inherited X-linked dominant variant of chondrodysplasia punctata which primarily affects the skin, bones and eyes. CDPX2 results from mutations in EBP (emopamil binding protein), and presents with increased levels of sterol precursors 8(9)-cholesterol and 8-dehydrocholesterol., Objectives: To expand the understanding of CDPX2, clinically, biochemically and genetically., Methods: We present one of the largest series reported to date, including 13 female patients belonging to nine Spanish families. Patients were studied biochemically using gas chromatography-mass spectrometry, genetically using polymerase chain reaction and in their methylation status using the HUMARA assay., Results: In our cases, there was a clear relationship between abnormal sterol profile and the EBP gene mutation. We describe three novel mutations in the EBP gene. EBP mutations were inherited in three out of nine families and were sporadic in the remaining cases., Conclusions: No clear genotype-phenotype correlation was found. Patients' biochemical profiles did not reveal a relationship between sterol profiles and severity of disease. A skewed X-chromosome inactivation may explain the clinical phenotype in CDPX2 in some familial cases., (© 2011 The Authors. BJD © 2011 British Association of Dermatologists.)

Published
2012
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