Unmasking of a Recessive SCARF2 Mutation by a 22q11.12 de novo Deletion in a Patient with Van den Ende-Gupta Syndrome
| Autor: | B Gentilin, D. Clerici, Francesca Mari, Alessandra Renieri, Mf Bedeschi, Lorenzo Colombo, Kristin Hofmann, Anita Rauch |
|---|---|
| Rok vydání: | 2010 |
| Předmět: |
Genetics
Maxillary hypoplasia Splice site mutation Genetic heterogeneity business.industry Medizinische Fakultät -ohne weitere Spezifikation Short Report Van den Ende-Gupta syndrome medicine.disease Compound heterozygosity Blepharophimosis DiGeorge syndrome medicine ddc:610 Craniofacial business Genetics (clinical) |
| Zdroj: | Molecular Syndromology. 1:239-245 |
| ISSN: | 1661-8777 1661-8769 |
| DOI: | 10.1159/000328135 |
| Popis: | Van den Ende-Gupta syndrome (VDEGS) is a congenital condition characterized by craniofacial and skeletal manifestations, specifically blepharophimosis, malar and maxillary hypoplasia, distinctive nose, arachnocamptodactyly, and long slender bones of the hands and feet. To date, only 24 patients have been described. It is generally thought that the syndrome is transmitted by an autosomal recessive mode of inheritance, although evidence for genetic heterogeneity has recently been presented. We report on a girl followed from birth up to 3 years of life with a set of peculiar minor anomalies, arachnocamptodactyly of hands and feet, characteristic of VDEGS in association with a 22q11.12 deletion. Recently, the VDEGS gene was mapped to the DiGeorge syndrome region on 22q11.2, and homozygous mutations in the SCARF2 gene were identified. We now report the first patient with VDEGS due to compound heterozygosity for the common 22q11.2 microdeletion and a hemizygous SCARF2 splice site mutation. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|