A stop codon mutation in COL11A2 induces exon skipping and leads to non‐ocular Stickler syndrome
- 10 September 2004
- journal article
- case report
- Published by Wiley in American Journal of Medical Genetics Part A
- Vol. 130A (2), 160-164
- https://doi.org/10.1002/ajmg.a.30111
Abstract
Mutations in COL11A2 cause a spectrum of phenotypes affecting chondrogenic tissues. We analyzed this gene by conformation sensitive gel electrophoresis (CSGE) and sequencing in a family with non‐ocular Stickler syndrome, and found a heterozygous C → T mutation in exon 57 + 13 in affected members, resulting in Arg893Stop codon. Since heterozygous nonsense mutations in COL11A2 do not usually lead to any obvious phenotype, all exons and exon boundaries of COL11A2 in the sample of the propositus were sequenced. Because no disease‐associated alterations were found, we performed RT‐PCR analysis on the RNA. Analysis showed skipping of exon 57 in one allele, resulting in an inframe deletion of 54 bp or 18 amino acids, which would explain the phenotype observed in the family. Thus, the exon skipping resulted from a nonsense‐associated altered splicing (NAS). This article contains supplementary material, which may be viewed at the American Journal of Medical Genetics website at http://www.interscience.wiley.com/jpages/0148‐7299/suppmat/index.html.Keywords
This publication has 24 references indexed in Scilit:
- Collagen XI sequence variations in nonsyndromic cleft palate, Robin sequence and micrognathiaEuropean Journal of Human Genetics, 2003
- Nonsense-Associated Altered SplicingMolecular Cell, 2002
- Listening to silence and understanding nonsense: exonic mutations that affect splicingNature Reviews Genetics, 2002
- Autosomal Recessive Disorder Otospondylomegaepiphyseal Dysplasia Is Associated with Loss-of-Function Mutations in the COL11A2 GeneAmerican Journal of Human Genetics, 2000
- Splicing Mutations of 54-bp Exons in the COL11A1 Gene Cause Marshall Syndrome, but Other Mutations Cause Overlapping Marshall/Stickler PhenotypesAmerican Journal of Human Genetics, 1999
- Stickler syndrome without eye involvement is caused by mutations in COL11A2, the gene encoding the α2(XI) chain of type XI collagenThe Journal of Pediatrics, 1998
- The Human COL11A2 Gene Structure Indicates that the Gene Has Not Evolved with the Genes for the Major Fibrillar CollagensPublished by Elsevier BV ,1995
- Bone dysplasia, midface hypoplasia, and deafness: Three new patients and review of the literatureAmerican Journal of Medical Genetics, 1993
- A bone dysplasia with deafnessThe British Journal of Radiology, 1974