Mosaicism in Stickler syndrome.
Ontology highlight
ABSTRACT:
SUBMITTER: Stevenson DA
PROVIDER: S-EPMC3674818 | biostudies-literature | 2012 Jun
REPOSITORIES: biostudies-literature
Publications
Mosaicism in Stickler syndrome.
Stevenson David A DA Vanzo Rena R Damjanovich Kristy K Hanson Heather H Muntz Harlan H Hoffman Robert O RO Bayrak-Toydemir Pinar P
European journal of medical genetics 20120330 6-7
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. ...[more]
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