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Case Reports
. 2012 Jun;55(6-7):418-22.
doi: 10.1016/j.ejmg.2012.03.006. Epub 2012 Mar 30.

Mosaicism in Stickler syndrome

David A Stevenson  1 , Rena Vanzo, Kristy Damjanovich, Heather Hanson, Harlan Muntz, Robert O Hoffman, Pinar Bayrak-Toydemir
Affiliations
Case Reports

Mosaicism in Stickler syndrome

David A Stevenson et al. Eur J Med Genet. 2012 Jun.

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.

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Figures

Fig. 1
Fig. 1
Pedigree of family. Black circles/squares indicate clinically affected status for Stickler syndrome.
Fig. 2
Fig. 2
Photograph of face of boy at four years of age (A) and at 10 years of age (B) with physical features of Stickler syndrome with mutation in COL2A1 (c.1525delT).
Fig. 3
Fig. 3
Photograph of face of a girl as an (A) infant, and at (B) three years with physical features of Stickler syndrome with mutation in COL2A1 (c.1525delT).
Fig. 4
Fig. 4
(A) Photograph of clinically unaffected parents of 2 children with Stickler syndrome. (B) Photograph of face of the father who was found to have low level mosaicism for mutation in COL2A1 (c.1525delT) in peripheral blood.
Fig. 5
Fig. 5
Sanger sequencing results of the family with individuals affected with Stickler syndrome. A. Affected proband (II-1). B. Affected sib (II-4). C. Unaffected sib (II-3). D. Mother (I-2). E. Father (I-1); forward sequence. F. Father (I-1); reverse sequence. The arrow denotes the c.1525delT in exon 26 of the COL2A1 gene.
See this image and copyright information in PMC

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