title: Homozygosity for a novel truncating mutation confirms TBX15 deficiency as the cause of Cousin syndrome.
abstract: 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.
authors.affiliation: Division of Molecular Pediatrics, Department of Pediatrics, University of Lausanne, Centre Hospitalier Universitaire Vaudois, Lausanne, Switzerland.
authors.forename: Esra
authors.initials: E
authors.lastname: Dikoglu
authors.forename: Pelin Ozlem
authors.initials: PO
authors.lastname: Simsek-Kiper
authors.forename: Gulen Eda
authors.initials: GE
authors.lastname: Utine
authors.forename: Belinda
authors.initials: B
authors.lastname: Campos-Xavier
authors.forename: Koray
authors.initials: K
authors.lastname: Boduroglu
authors.forename: Luisa
authors.initials: L
authors.lastname: Bonafé
authors.forename: Andrea
authors.initials: A
authors.lastname: Superti-Furga
authors.forename: Sheila
authors.initials: S
authors.lastname: Unger
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics* / Q000503:physiopathology; D000328:Adult; D018389:Codon, Nonsense; D004392:Dwarfism; D004413:Dysostoses / Q000150:complications / Q000151:congenital* / Q000000981:diagnostic imaging / Q000235:genetics / Q000503:physiopathology; D005260:Female; D006720:Homozygote; D006801:Humans; D009154:Mutation; D010375:Pedigree; D010388:Pelvis / Q000002:abnormalities* / Q000000981:diagnostic imaging / Q000503:physiopathology; D010641:Phenotype; D011859:Radiography; D012782:Shoulder / Q000002:abnormalities* / Q000000981:diagnostic imaging / Q000503:physiopathology; D020825:T-Box Domain Proteins / Q000235:genetics*
chemical_list: D018389:Codon, Nonsense; D020825:T-Box Domain Proteins; C523795:TBX15 protein, human
keywords: Cousin syndrome; TBX15; pelviscapular dysplasia