Homozygous and compound-heterozygous mutations in TGDS cause catel-manzke syndrome

N Ehmke; A Caliebe; R Koenig; SG Kant; Z Stark; V Cormier-Daire; D Wieczorek; G Gillessen-Kaesbach; K Hoff; A Kawalia; H Thiele; J Altmüller; B Fischer-Zirnsak; A Knaus; N Zhu; V Heinrich; C Huber; I Harabula; M Spielmann; D Horn; U Kornak; J Hecht; PM Krawitz; P Nürnberg; R Siebert; H Manzke; S Mundlos

Journal article

Homozygous and compound-heterozygous mutations in TGDS cause catel-manzke syndrome

N Ehmke, A Caliebe, R Koenig, SG Kant, Z Stark, V Cormier-Daire, D Wieczorek, G Gillessen-Kaesbach, K Hoff, A Kawalia, H Thiele, J Altmüller, B Fischer-Zirnsak, A Knaus, N Zhu, V Heinrich, C Huber, I Harabula, M Spielmann, D Horn Show all

American Journal of Human Genetics | Published : 2014

DOI: 10.1016/j.ajhg.2014.11.004

Abstract

Catel-Manzke syndrome is characterized by Pierre Robin sequence and a unique form of bilateral hyperphalangy causing a clinodactyly of the index finger. We describe the identification of homozygous and compound heterozygous mutations in TGDS in seven unrelated individuals with typical Catel-Manzke syndrome by exome sequencing. Six different TGDS mutations were detected: c.892A>G (p.Asn298Asp), c.270-271del (p.Lys91Asnfs∗22), c.298G>T (p.Ala100Ser), c.294T>G (p.Phe98Leu), c.269A>G (p.Glu90Gly), and c.700T>C (p.Tyr234His), all predicted to be disease causing. By using haplotype reconstruction we showed that the mutation c.298G>T is probably a founder mutation. Due to the spectrum of the amino ..

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