Document Detail

Vitreous phenotype: a key diagnostic sign in Stickler syndrome types 1 and 2 complicated by double heterozygosity.
MedLine Citation:
PMID:  17318849     Owner:  NLM     Status:  MEDLINE    
We describe the clinical findings in two patients with double heterozygosity, both involving Stickler syndrome. In case 1, the proposita had Albright hereditary osteodystrophy which was inherited from her mother and type 1 Stickler syndrome which was a new mutation. The combination of manifestations from the two syndromes had resulted in initial diagnostic confusion. Diagnosis of the latter syndrome was made only following ophthalmic examination which documented the presence of a membranous vitreous anomaly characteristic of type 1 Stickler syndrome. Subsequent confirmation was achieved by mutation analysis of the COL2A1 gene. The propositus in case 2 inherited Treacher Collins syndrome paternally and type 2 Stickler syndrome maternally. The overlap of facial anomalies may have resulted in a more severe phenotype for the patient. The diagnosis of Stickler syndrome in the propositus was confirmed initially by vitreous assessment and later by demonstration of mutation in the COL11A1 gene. These two patients highlight the key role of vitreous examination and vitreoretinal phenotyping in the differential diagnosis of Stickler syndrome and its subtypes in cases where the clinical picture is complicated by double heterozygosity.
Alan Ang; Tsiang Ung; Narman Puvanachandra; Louise Wilson; Frances Howard; Michael Ryalls; Allan Richards; Sarah Meredith; Maureen Laidlaw; Arabella Poulson; John Scott; Martin Snead
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  American journal of medical genetics. Part A     Volume:  143A     ISSN:  1552-4825     ISO Abbreviation:  Am. J. Med. Genet. A     Publication Date:  2007 Mar 
Date Detail:
Created Date:  2007-02-28     Completed Date:  2007-05-08     Revised Date:  2014-09-03    
Medline Journal Info:
Nlm Unique ID:  101235741     Medline TA:  Am J Med Genet A     Country:  United States    
Other Details:
Languages:  eng     Pagination:  604-7     Citation Subset:  IM    
Copyright Information:
(c) 2007 Wiley-Liss, Inc.
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MeSH Terms
Abnormalities, Multiple / classification,  genetics*,  pathology
Child, Preschool
Collagen Type II / genetics
Connective Tissue Diseases / pathology*
DNA Mutational Analysis
Diagnosis, Differential
Eye Diseases, Hereditary / pathology*
GTP-Binding Protein alpha Subunits, Gs / genetics
Vitreous Body / pathology*
Reg. No./Substance:
0/COL2A1 protein, human; 0/Collagen Type II; EC 3.6.1.-/GNAS protein, human; EC Protein alpha Subunits, Gs

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