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

Majava, Marja; Hoornaert, Kristien P.; Bartholdi, Deborah; Mortier, Geert R.; et al.

doi:10.1002/AJMG.A.31586

Publication

Title

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

Author

Majava, Marja

Hoornaert, Kristien P.

Bartholdi, Deborah

Mortier, Geert R.

et al.

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 4755) 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 MarshallStickler phenotype with less pronounced facial features. None of these had a mutation in the hot spot region of intron 50.

Language

English

Source (journal)

American journal of medical genetics : part A. - Bognor Regis, 2003, currens

Publication

Bognor Regis : 2007

ISSN

1552-4825 [print]

1552-4833 [online]

Volume/pages

143 :3 (2007) , p. 258-264

ISI