A family of distal arthrogryposis type 5 due to a novel PIEZO2 mutation
作者： Mariko Okubo , Atsushi Fujita , Yoshiaki Saito , Hirofumi Komaki , Akihiko Ishiyama
DOI: 10.1002/AJMG.A.36881
关键词: Medicine 、 Ptosis 、 Optic disk 、 Anatomy 、 Synostosis 、 Proband 、 Congenital contracture 、 Myopathy 、 Restrictive lung disease 、 Muscle contracture
摘要: Distal arthrogryposis (DA) encompasses a heterogeneous group of hereditary disorders with multiple congenital contractures predominant in the distal extremities. A total 10 subtypes are proposed based on pattern and association extraarticular symptoms. DA5 is defined as subtype ptosis/oculomotor limitation. However, affected individuals have variety non-ocular features well. We report two-generation family, including four who all had joints, ptosis, restricted ocular movements, distinct facial appearance deep-set eyes, shortening 1st 5th toes. The proband her mother restrictive lung disease, recently recognized syndromic component DA5, while younger patients did not. metacarpal metatarsal synostosis, showed excavation optic disk. Whole-exome sequencing revealed novel heterozygous mutation c.4456G>C (p.A1486P) PIEZO2. PIEZO2 encodes mechanosensitive ion channel, malfunction which provides pleiotropic effects muscles, function, bone development. © 2015 Wiley Periodicals, Inc.
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