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COL11A2 mutation associated with autosomal recessive Weissenbacher–Zweymuller syndrome: Molecular and clinical overlap with otospondylomegaepiphyseal dysplasia (OSMED)
Author(s) -
Harel Tamar,
Rabinowitz Ronen,
Hendler Netta,
Galil Aharon,
Flusser Hagit,
Chemke Juan,
Gradstein Libe,
Lifshitz Tova,
Ofir Rivka,
Elbedour Khalil,
Birk Ohad S.
Publication year - 2004
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.30371
Subject(s) - genetics , biology , consanguinity , dwarfism , dysplasia , mutation , gene
Autosomal recessive Weissenbacher–Zweymuller syndrome (WZS) is a skeletal dysplasia characterized by rhizomelic dwarfism and severe hearing loss. Mutations in the COL11A2 gene have been implicated in causing the autosomal dominant form of this syndrome as well as non‐ocular Stickler syndrome and the autosomal recessive syndrome otospondylomegaepiphyseal dysplasia (OSMED). In a consanguineous Bedouin tribe living in Southern Israel, five individuals affected by autosomal recessive WZS were available for genetic analysis. Homozygosity of a mutation in the COL11A2 gene was found in all affected individuals. This finding lends molecular support to the clinical notion that autosomal recessive WZS and OSMED are a single entity. © 2004 Wiley‐Liss, Inc.