A report on 10 new patients with heterozygous mutations in the COL11A1 gene and a review of genotype-phenotype correlations in type XI collagenopathies
| Autor: | Michael B. Petersen, Deborah Bartholdi, George Kitsos, Marta Carrera, Geert Mortier, J M van Hagen, Irene Stolte-Dijkstra, Minna Männikkö, Leena Ala-Kokko, Katelijne Bouman, Jane A. Hurst, Dunja Niedrist, Mieke C. Bouma, Debbie Shears, Kristien Hoornaert, Koenraad Devriendt, Marja Majava |
|---|---|
| Přispěvatelé: | University of Zurich, Mortier, Geert R |
| Jazyk: | angličtina |
| Rok vydání: | 2007 |
| Předmět: |
Adult
Male Heterozygote 2716 Genetics (clinical) Adolescent Genetic Diseases Inborn/*diagnosis 10039 Institute of Medical Genetics 610 Medicine & health Biology Collagen Type XI SEQUENCE COL11A1 VITREOUS PHENOTYPE 1311 Genetics STICKLER-SYNDROME Genotype Genetics medicine LOCUS Missense mutation Humans Stickler syndrome HETEROGENEITY Genetic Testing Child Marshall syndrome MARSHALL-SYNDROME Genetics (clinical) Splice site mutation Intron Genetic Diseases Inborn Infant Heterozygote advantage medicine.disease Phenotype FAMILY Collagen Type XI/*genetics DEFECT Child Preschool Mutation 570 Life sciences biology Female |
| Zdroj: | American Journal of Medical Genetics. Part A, 143A(3), 258-264. Wiley |
| ISSN: | 1552-4833 1552-4825 |
| Popis: | A series of 44 unrelated patients in whom COL2A1 screening demonstrated normal results but whose phenotype was nevertheless highly Suggestive of either Stickler syndrome (with ocular involvement) or Marshall syndrome were investigated for mutations in the COL11A1 gene. Heterozygous COL11A1 mutations were found in 10 individuals. A splice site alteration (involving introns 47-55) was present in seven cases, with one in intron 50 (c.3816 + 1G > A) occurring in three patients. Two patients had a different deletion, and a missense mutation (Gly1471Asp) was observed in one case. In 4/10 patients the phenotype was classified as Marshall syndrome because of early-onset severe hearing loss and characteristic facial features. These four patients were all heterozygous for a splice site mutation in intron 50. One of these cases had a type 1 vitreous anomaly despite the presence of a COL11A1 mutation. The remaining 6/10 patients had an overlapping Marshall-Stickler phenotype with less pronounced facial features. None of these had a mutation in the hot spot region of intron 50. (c) 2007 Wiley-Liss, Inc. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|
Plný text