期刊
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
卷 167, 期 5, 页码 1100-1106出版社
WILEY-BLACKWELL
DOI: 10.1002/ajmg.a.36881
关键词
distal arthrogryposis type 5; restrictive lung disease; myopathy; optic nerve; synostosis; PIEZO2; mechanosensitive ion channel
资金
- Grants-in-Aid for Scientific Research [24118007, 24118001] Funding Source: KAKEN
Distal arthrogryposis (DA) encompasses a heterogeneous group of hereditary disorders with multiple congenital contractures predominant in the distal extremities. A total of 10 subtypes are proposed based on the pattern of contractures and association with extraarticular symptoms. DA5 is defined as a subtype with ptosis/oculomotor limitation. However, affected individuals have a variety of non-ocular features as well. We report on a two-generation family, including four affected individuals who all had congenital contractures of the distal joints, ptosis, restricted ocular movements, distinct facial appearance with deep-set eyes, and shortening of the 1st and 5th toes. The proband and her affected mother had restrictive lung disease, a recently recognized syndromic component of DA5, while younger patients did not. The proband had metacarpal and metatarsal synostosis, and the mother showed excavation of the optic disk. Whole-exome sequencing revealed a novel heterozygous mutation c.4456G>C (p.A1486P) of PIEZO2. PIEZO2 encodes a mechanosensitive ion channel, malfunction of which provides pleiotropic effects on joints, ocular muscles, lung function, and bone development. (c) 2015 Wiley Periodicals, Inc.
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