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Distal arthrogryposis with variable clinical expression caused by TNNI2 mutation.

ABSTRACT: Distal arthrogryposis (DA) is a clinically and genetically heterogeneous disorder with multiple joint contractures. We describe a female DA patient with hand and foot deformities, and right-sided torticollis. Using exome sequencing, we identified a novel TNNI2 mutation (c.485>A, p.Arg162Lys) in the patient and her father. The father has no typical DA but hip dysplasia. This may explain the clinical features of DA2B in this family, but with variable clinical expression.

SUBMITTER: Culic V

PROVIDER: S-EPMC5061862 | biostudies-literature | 2016

REPOSITORIES: biostudies-literature

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Distal arthrogryposis with variable clinical expression caused by TNNI2 mutation.

Čulić Vida V Miyake Noriko N Janković Sunčana S Petrović Davor D Šimunović Marko M Đapić Tomislav T Shiina Masaaki M Ogata Kazuhiro K Matsumoto Naomichi N

Human genome variation 20161013

Distal arthrogryposis (DA) is a clinically and genetically heterogeneous disorder with multiple joint contractures. We describe a female DA patient with hand and foot deformities, and right-sided torticollis. Using exome sequencing, we identified a novel TNNI2 mutation (c.485>A, p.Arg162Lys) in the patient and her father. The father has no typical DA but hip dysplasia. This may explain the clinical features of DA2B in this family, but with variable clinical expression. ...[more]

PMID: 27790376

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