Phenotype and genotype in 17 patients with Goltz-Gorlin syndrome
| Autor: | Saskia M. Maas, A. J. van Essen, Maria Paola Lombardi, Karin Writzl, Emma Wakeling, I K Temple, V K A Kumar, Raoul C.M. Hennekam, Bruce Castle |
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| Přispěvatelé: | Human Genetics, Paediatric Genetics, Amsterdam Neuroscience, Amsterdam Public Health, Faculteit der Geneeskunde |
| Rok vydání: | 2009 |
| Předmět: |
Adult
Male Pathology medicine.medical_specialty Adolescent Genotype Nonsense mutation Germline mosaicism Biology BODY-WALL COMPLEX PORCN GENE Frameshift mutation TO-DAUGHTER TRANSMISSION Genetics medicine Missense mutation Humans Child Genetics (clinical) FATHER Infant Newborn Dysostosis Infant Membrane Proteins DEFECTS Middle Aged medicine.disease Focal dermal hypoplasia LIMB PORCN Pentalogy of Cantrell DEFICIENCY Phenotype DEPENDENT PROBE AMPLIFICATION Child Preschool FOCAL DERMAL HYPOPLASIA Mutation Female INACTIVATION Acyltransferases |
| Zdroj: | Journal of medical genetics, 46(10), 716-720. BMJ Publishing Group JOURNAL OF MEDICAL GENETICS, 46(10), 716-720. BMJ PUBLISHING GROUP Journal of Medical Genetics, 46(10), 716-720. BMJ Publishing Group |
| ISSN: | 0022-2593 |
| Popis: | Background: Goltz-Gorlin syndrome or focal dermal hypoplasia is a highly variable, X-linked dominant syndrome with abnormalities of ectodermal and mesodermal origin. In 2007, mutations in the PORCN gene were found to be causative in Goltz-Gorlin syndrome.Method: A series of 17 patients with Goltz-Gorlin syndrome is reported on, and their phenotype and genotype are described.Results: In 14 patients (13 females and one male), a PORCN mutation was found. Mutations included nonsense (n = 5), frameshift (n = 2), aberrant splicing (n = 2) and missense (n = 5) mutations. No genotype-phenotype correlation was found. All patients with the classical features of the syndrome had a detectable mutation. In three females with atypical signs, no mutation was found. The male patient had classical features and showed mosaicism for a PORCN nonsense mutation in fibroblasts. Two affected sisters had a mutation not detectable in their parents, supporting germline mosaicism. Their father had undergone radiation for testicular cancer in the past. Two classically affected females had three severely affected female fetuses which all had midline thoracic and abdominal wall defects, resembling the pentalogy of Cantrell and the limb-body wall complex. Thoracic and abdominal wall defects were also present in two surviving patients. PORCN mutations can possibly cause pentalogy of Cantrell and limb-body wall complexes as well. Therefore, particularly in cases with limb defects, it seems useful to search for these.Conclusions: PORCN mutations can be found in all classically affected cases of Goltz-Gorlin syndrome, including males. Somatic and germline mosaicism occur. There is no evident genotype-phenotype correlation. |
| Databáze: | OpenAIRE |
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