Severe neonatal spondylometaphyseal dysplasia in two siblings
| Autor: | Lukasz Kuszel, Jerzy Sułko, Kazimierz Kozlowski, Lucjusz Jakubowski, Tadeusz Biegański, Krystyna Chrzanowska, Kryspin Niedzielski, Malwina Czarny-Ratajczak, Dobromila Baranska, Beata Kocyła-Karczmarewicz |
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| Rok vydání: | 2009 |
| Předmět: |
Male
Candidate gene DNA Mutational Analysis Germline mosaicism Biology Osteochondrodysplasias medicine.disease_cause Severity of Illness Index Infant Newborn Diseases Diagnosis Differential Genetics medicine Humans Sibling Child Collagen Type II Gene Genetics (clinical) Receptor Parathyroid Hormone Type 1 Spondyloepimetaphyseal dysplasia Mutation Siblings Infant Newborn medicine.disease Osteochondrodysplasia Phenotype Female |
| Zdroj: | American Journal of Medical Genetics Part A. :2166-2172 |
| ISSN: | 1552-4833 1552-4825 |
| Popis: | We report on two siblings with a severe neonatal form of spondylometaphyseal dysplasia (SMD). Similar cases have been reported in four publications. Analysis of pedigree data from the original and present families suggests an autosomal recessive mode of inheritance, although parental gonadal mosaicism is also possible. The similarities in the phenotype between our patients and spondyloepimetaphyseal dysplasia congenita (SEMDC) and spondyloepimetaphyseal dysplasia Strudwick (SEMDS) type, indicated that these patients could have a defect in the COL2A1 gene. Molecular analysis of genomic DNA of these patients excluded this gene. Another potential candidate gene PTHR1, was also analyzed in the selected regions and no mutation was found. This gene is probably causative in the Jansen type of SMD, which shares some phenotypic features with the siblings whom we documented. Our results indicate that a new candidate gene for the reported form of SMD should be sought. |
| Databáze: | OpenAIRE |
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