Homozygous and compound-heterozygous mutations in TGDS cause Catel-Manzke syndrome.

doi:10.1016/j.ajhg.2014.11.004

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Article

Homozygous and compound-heterozygous mutations in TGDS cause Catel-Manzke syndrome.

American journal of human genetics - 4 Dec 2014

Ehmke Nadja, Caliebe Almuth, Koenig Rainer, Kant Sarina G, Stark Zornitza, Cormier-Daire Valérie, Wieczorek Dagmar, Gillessen-Kaesbach Gabriele, Hoff Kirstin, Kawalia Amit, Thiele Holger, Altmüller Janine, Fischer-Zirnsak Björn, Knaus Alexej, Zhu Na, Heinrich Verena, Huber Celine, Harabula Izabela, Spielmann Malte, Horn Denise, Kornak Uwe, Hecht Jochen, Krawitz Peter M, Nürnberg Peter, Siebert Reiner, Manzke Hermann, Mundlos Stefan

Abstract excerpt

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...

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Identifiers

PMID: 25480037
DOI: 10.1016/j.ajhg.2014.11.004
PMCID: PMC4259972

Genes

TGDS

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