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Kniest dysplasia is caused by dominant collagen II (COL2A1) mutations: Parental somatic mosaicism manifesting as Stickler phenotype and mild spondyloepiphyseal dysplasia

Kniest dysplasia is caused by dominant collagen II (COL2A1) mutations: Parental somatic mosaicism... 247 24 24 6 6 J. Spranger H. Menger S. Mundlos A. Winterpacht B. Zabel Children's Hospital University of Mainz Langenbeckstrasse 1 D-55101 Mainz Germany Abstract We describe two unrelated children with Kniest dysplasia, a severe autosomal dominant form of chondrodysplastic dwarfism associated with cleft palate, progressive arthropathy, myopia and retinal detachment. In the first patient the disorder was caused by a 28 base pair exon 12/intron 12 deletion in the gene coding for type II collagen. Her mother had mild abnormalities of the vertebral bodies and long bones compatible with abnormalities seen in Stickler arthro-ophthalmopathy. The second child had a transition of AG to GG at the 3′ splice site of intron 20 of the COL2A1 gene. Her father had premature polyarthrosis interpreted as a sequela of mild spondyloepiphyseal dysplasia. Molecular studies revealed that the mother of the first and the father of the second child each had somatic mosaicism of the same mutation as their children. Heterozygous mutations of the gene coding for type II collagen can cause Kniest dysplasia, and somatic mosaicism for the same mutations can result in the Stickler phenotype or in mild spondyloepiphyseal dysplasia leading to premature polyarthrosis. http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Pediatric Radiology Springer Journals

Kniest dysplasia is caused by dominant collagen II (COL2A1) mutations: Parental somatic mosaicism manifesting as Stickler phenotype and mild spondyloepiphyseal dysplasia

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References (27)

Publisher
Springer Journals
Copyright
Copyright © 1994 by Springer-Verlag
Subject
Medicine & Public Health; Imaging / Radiology; Pediatrics
ISSN
0301-0449
eISSN
1432-1998
DOI
10.1007/BF02011911
Publisher site
See Article on Publisher Site

Abstract

247 24 24 6 6 J. Spranger H. Menger S. Mundlos A. Winterpacht B. Zabel Children's Hospital University of Mainz Langenbeckstrasse 1 D-55101 Mainz Germany Abstract We describe two unrelated children with Kniest dysplasia, a severe autosomal dominant form of chondrodysplastic dwarfism associated with cleft palate, progressive arthropathy, myopia and retinal detachment. In the first patient the disorder was caused by a 28 base pair exon 12/intron 12 deletion in the gene coding for type II collagen. Her mother had mild abnormalities of the vertebral bodies and long bones compatible with abnormalities seen in Stickler arthro-ophthalmopathy. The second child had a transition of AG to GG at the 3′ splice site of intron 20 of the COL2A1 gene. Her father had premature polyarthrosis interpreted as a sequela of mild spondyloepiphyseal dysplasia. Molecular studies revealed that the mother of the first and the father of the second child each had somatic mosaicism of the same mutation as their children. Heterozygous mutations of the gene coding for type II collagen can cause Kniest dysplasia, and somatic mosaicism for the same mutations can result in the Stickler phenotype or in mild spondyloepiphyseal dysplasia leading to premature polyarthrosis.

Journal

Pediatric Radiology – Springer Journals

Published: Nov 1, 1994

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