Header

UZH-Logo

Maintenance Infos

A report on 10 new patients with heterozygous mutations in the COL11A1 gene and a review of genotype-phenotype correlations in type XI collagenopathies


Majava, Marja; Hoornaert, Kristien P; Bartholdi, Deborah; Bouma, Mieke C; Bouman, Katelijne; Carrera, Marta; Devriendt, Koenraad; Hurst, Jane; Kitsos, George; Niedrist, Dunja; Petersen, Michael B; Shears, Debbie; Stolte-Dijkstra, Irene; Van Hagen, J M; Ala-Kokko, Leena; Männikkö, Minna; Mortier, Geert R (2007). A report on 10 new patients with heterozygous mutations in the COL11A1 gene and a review of genotype-phenotype correlations in type XI collagenopathies. American Journal of Medical Genetics. Part A, 143A(3):258-264.

Abstract

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.

Abstract

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.

Statistics

Citations

Dimensions.ai Metrics
46 citations in Web of Science®
50 citations in Scopus®
Google Scholar™

Altmetrics

Downloads

1 download since deposited on 26 Nov 2020
1 download since 12 months
Detailed statistics

Additional indexing

Item Type:Journal Article, refereed, original work
Communities & Collections:04 Faculty of Medicine > Institute of Medical Genetics
Dewey Decimal Classification:570 Life sciences; biology
610 Medicine & health
Scopus Subject Areas:Life Sciences > Genetics
Health Sciences > Genetics (clinical)
Language:English
Date:1 February 2007
Deposited On:26 Nov 2020 13:50
Last Modified:27 Nov 2020 21:01
Publisher:Wiley-Blackwell Publishing, Inc.
ISSN:1552-4825
OA Status:Closed
Publisher DOI:https://doi.org/10.1002/ajmg.a.31586
PubMed ID:17236192

Download

Closed Access: Download allowed only for UZH members