Homozygosity for a novel truncating mutation confirms TBX15 deficiency as the cause of Cousin syndrome.

Détails

ID Serval
serval:BIB_38C4C1110B93
Type
Article: article d'un périodique ou d'un magazine.
Collection
Publications
Institution
Titre
Homozygosity for a novel truncating mutation confirms TBX15 deficiency as the cause of Cousin syndrome.
Périodique
American Journal of Medical Genetics. Part A
Auteur⸱e⸱s
Dikoglu E., Simsek-Kiper P.O., Utine G.E., Campos-Xavier B., Boduroglu K., Bonafé L., Superti-Furga A., Unger S.
ISSN
1552-4833 (Electronic)
ISSN-L
1552-4825
Statut éditorial
Publié
Date de publication
2013
Peer-reviewed
Oui
Volume
161A
Numéro
12
Pages
3161-3165
Langue
anglais
Notes
Publication types: Journal Article ; Research Support, Non-U.S. Gov'tPublication Status: ppublish
Résumé
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.
Pubmed
Web of science
Création de la notice
21/02/2014 19:19
Dernière modification de la notice
20/08/2019 14:28
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