Homozygosity for a Novel Truncating Mutation Confirms TBX15 Deficiency as the Cause of Cousin Syndrome

Dikoglu E., ŞİMŞEK KİPER P. Ö., ÜTİNE G. E., Campos-Xavier B., BODUROĞLU O. K., Bonafe L., ...Daha Fazla

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, cilt.161, sa.12, ss.3161-3165, 2013 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 161 Sayı: 12
  • Basım Tarihi: 2013
  • Doi Numarası: 10.1002/ajmg.a.36173
  • Dergi Adı: AMERICAN JOURNAL OF MEDICAL GENETICS PART A
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.3161-3165
  • Anahtar Kelimeler: Cousin syndrome, TBX15, pelviscapular dysplasia, PELVIS-SHOULDER DYSPLASIA, SCAPULA
  • Hacettepe Üniversitesi Adresli: Evet

Özet

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. (c) 2013 Wiley Periodicals, Inc.