A severe female case of arthrogryposis multiplex congenita with brain atrophy, spastic quadriplegia and intellectual disability caused by ZC4H2 mutation

Yukimune Okubo, Wakaba Endo, Takehiko Inui, Sato Suzuki-Muromoto, Takuya Miyabayashi, Noriko Togashi, Ryo Sato, Natsuko Arai-Ichinoi, Atsuo Kikuchi, Shigeo Kure, Kazuhiro Haginoya

研究成果: Article査読

3 被引用数 (Scopus)

抄録

Arthrogryposis multiplex congenita (AMC) is characterized by heterogeneous multiple congenital contractures appearing at birth. Mutations in X-linked zinc-finger gene ZC4H2 were recently identified in some families and individuals with variable forms of AMC associated with dysmorphic signs, intellectual disability and spastic paresis. We present a non-consanguineous Japanese female presenting AMC with severe intellectual disability and spastic quadriplegia who also had progressive brain atrophy. Microarray-based comparative genomic hybridization identified 395 kb microdeletions at Xq11.2 which only included ZC4H2 gene. Previous reports showed that affected females have lesser symptoms and slight abnormality on brain MRI compared to male due to X-inactivation. Our case, however, showed severe manifestation than as ever reported as well as progressive diffuse brain atrophy, which implicated contribution of other genetic or environmental factors or extremely skewed X inactivation.

本文言語English
ページ(範囲)334-338
ページ数5
ジャーナルBrain and Development
40
4
DOI
出版ステータスPublished - 2018 4

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Developmental Neuroscience
  • Clinical Neurology

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