Somatic mosaicism and the phenotypic expression of COL2A1 mutations

Mutations in COL2A1, the gene for type II‐collagen, can result in a wide variety of phenotypes depending upon the nature of the mutation. Dominant negative mutations tend to result in severe and often lethal skeletal dysplasias such as achondrogenesis type 2, Kniest dysplasia, and spondyloepiphyseal...

Full description

Saved in:
Bibliographic Details
Published in:American journal of medical genetics. Part A 2012-05, Vol.158A (5), p.1204-1207
Main Authors: Nagendran, Sonali, Richards, Allan J., McNinch, Annie, Sandford, Richard N., Snead, Martin P.
Format: Article
Language:English
Subjects:
Biological and medical sciences
COL2A1 mutations
Collagen Type II - genetics
Diseases of the osteoarticular system
Family
Genes, Dominant
germline mosaicism
Haplotypes
Humans
Kniest dysplasia
Malformations and congenital and or hereditary diseases involving bones. Joint deformations
Medical genetics
Medical sciences
Mosaicism
Mutation
Phenotype
somatic mosaicism
Stickler Syndrome
Citations: Items that this one cites
Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary:Mutations in COL2A1, the gene for type II‐collagen, can result in a wide variety of phenotypes depending upon the nature of the mutation. Dominant negative mutations tend to result in severe and often lethal skeletal dysplasias such as achondrogenesis type 2, Kniest dysplasia, and spondyloepiphyseal dysplasia congenita. Stickler syndrome, a condition characterized by ophthalmological and orofacial features, deafness and arthritis, usually, but not exclusively, results from haploinsufficiency. Overlapping features of all these disorders can also be seen in the same family. Rare reports have demonstrated that phenotypic variability can be explained in some families by somatic mosaicism. Here, we describe five further examples of somatic mosaicism of COL2A1 mutations illustrating the importance of detailed clinical evaluation and molecular testing even in clinically normal parents of affected individuals. © 2012 Wiley Periodicals, Inc.
ISSN:1552-4825
1552-4833
DOI:10.1002/ajmg.a.35303