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.

中文翻译：

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由TNNI2突变引起的远端关节变态的临床表达不均。

关节远端畸形（DA）是一种具有多种关节挛缩的临床和遗传异质性疾病。我们描述了女性DA患者的手足畸形和右侧斜颈。使用外显子组测序，我们在患者及其父亲中发现了一个新的TNNI2突变（c.485> A，p.Arg162Lys）。父亲没有典型的DA，而是髋关节发育不良。这可能解释了该家族中DA2B的临床特征，但是其临床表达存在差异。