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...

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Published inAmerican journal of medical genetics. Part A Vol. 158A; no. 5; pp. 1204 - 1207
Main Authors Nagendran, Sonali, Richards, Allan J., McNinch, Annie, Sandford, Richard N., Snead, Martin P.
Format Journal Article
LanguageEnglish
Published Hoboken Wiley Subscription Services, Inc., A Wiley Company 01.05.2012
Wiley-Liss
Wiley Subscription Services, Inc
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
Dysplasia
Diseases of the osteoarticular system
Somatic cell
Gene expression
Stickler syndrome
Genetic disease
Eye disease
Phenotype
germline mosaicism
Germ line
COL2A1 mutations
Mosaicism
Kniest dysplasia
somatic mosaicism
Mutation
Osteochondrodysplasia
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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.
Bibliography:mutations. Am J Med Genet Part A. 158A:1204–1207.
How to Cite this Article: Nagendran S, Richards AJ, McNinch A, Sandford RN, Snead MP. 2012. Somatic mosaicism and the phenotypic expression of
COL2A1
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ISSN:1552-4825
1552-4833
DOI:10.1002/ajmg.a.35303