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Homozygosity for a novel truncating mutation confirms TBX15 deficiency as the cause of Cousin syndrome
Author(s) -
Dikoglu Esra,
SimsekKiper Pelin Ozlem,
Utine Gulen Eda,
CamposXavier Belinda,
Boduroglu Koray,
Bonafé Luisa,
SupertiFurga Andrea,
Unger Sheila
Publication year - 2013
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.36173
Subject(s) - cousin , frameshift mutation , short stature , craniofacial , genetics , disease gene identification , hypoplasia , medicine , mutation , biology , anatomy , pediatrics , exome sequencing , history , archaeology , gene
Cousin syndrome, also called pelviscapular dysplasia (OMIM 260660), is characterized by short stature, craniofacial dysmorphism, and multiple skeletal anomalies. Following its description in two sibs in 1982, no new cases have been observed until the observation of two unrelated cases in 2008 who were homozygous for frameshift mutations in TBX15 . We investigated an adult individual with short stature, a complex craniofacial dysmorphism, malformed and rotated ears, short neck, elbow contractures, hypoacusis, and hypoplasia of scapula and pelvis on radiographs. We identified homozygosity for a novel nonsense mutation (c.841C>T) in TBX15 predicted to cause a premature stop (p.Arg281*) with truncation of the protein. This observation confirms that Cousin syndrome is a consistent and clinically recognizable phenotype caused by loss of function of TBX15 . © 2013 Wiley Periodicals, Inc.