title: Distal arthrogryposis with variable clinical expression caused byTNNI2mutation.
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 novelTNNI2mutation (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.
authors: Pediatric Clinic, Clinical Hospital Center Split , Split, Croatia.
authors: Vida
authors: V
authors: Čulić
authors: Department of Human Genetics, Yokohama City University Graduate School of Medicine , Yokohama, Japan.
authors: Noriko
authors: N
authors: Miyake
authors: Pediatric Clinic, Clinical Hospital Center Split , Split, Croatia.
authors: Sunčana
authors: S
authors: Janković
authors: Pediatric Clinic, Clinical Hospital Center Split , Split, Croatia.
authors: Davor
authors: D
authors: Petrović
authors: Pediatric Clinic, Clinical Hospital Center Split , Split, Croatia.
authors: Marko
authors: 0000-0002-5720-0893
authors: M
authors: Šimunović
authors: Orthopedic Clinic, Clinical Hospital Center Zagreb , Zagreb, Croatia.
authors: Tomislav
authors: T
authors: Đapić
authors: Department of Biochemistry, Yokohama City University Graduate School of Medicine , Yokohama, Japan.
authors: Masaaki
authors: M
authors: Shiina
authors: Department of Biochemistry, Yokohama City University Graduate School of Medicine , Yokohama, Japan.
authors: Kazuhiro
authors: K
authors: Ogata
authors: Department of Human Genetics, Yokohama City University Graduate School of Medicine , Yokohama, Japan.
authors: Naomichi
authors: N
authors: Matsumoto