Mosaicism in Stickler Syndrome

Overview

Journal Eur J Med Genet

Publisher Elsevier

Specialty Genetics

Date 2012 Apr 24

PMID 22522174

Citations 5

Authors

David A Stevenson

Rena Vanzo

Kristy Damjanovich

Heather Hanson

Harlan Muntz

Robert O Hoffman

Pinar Bayrak-Toydemir

Affiliations

Soon will be listed here.

Abstract

Stickler syndrome is a heterogeneous condition due to mutations in COL2A1, COL11A1, COL11A2, and COL9A1. To our knowledge, neither non-penetrance nor mosaicism for COL2A1 mutations has been reported for Stickler syndrome. We report on a family with two clinically affected sibs with Stickler syndrome who have clinically unaffected parents. Both sibs have a novel heterozygous mutation in exon 26 of COL2A1 (c.1525delT); this results in a premature termination codon downstream of the mutation site. One parent was found to have low level mosaicism in DNA extracted from whole blood. This scenario encourages consideration of molecular testing in seemingly unaffected parents for recurrence risks and potential screening for mild age-related manifestations.

Citing Articles

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Genome sequencing identifies three molecular diagnoses including a mosaic variant in the gene in an individual with Pol III-related leukodystrophy and Feingold syndrome.

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Phenotypic characterization of patients with early-onset high myopia due to mutations in or : Why not Stickler syndrome?.

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A novel COL11A1 missense mutation in siblings with non-ocular Stickler syndrome.

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