Xq26.1-26.2 gain identified on array comparative genomic hybridization in bilateral periventricular nodular heterotopia with overlying polymicrogyria

Yu Abe, Atsuo Kikuchi, Satoru Kobayashi, Keisuke Wakusawa, Soichiro Tanaka, Takehiko Inui, Shinji Kunishima, Shigeo Kure, Kazuhiro Haginoya

研究成果: Article査読

9 被引用数 (Scopus)

抄録

Periventricular nodular heterotopia (PNH) with overlying polymicrogyria (PMG) is a recently described, developmental brain malformation; however, the causative genes of this malformation have not yet been identified. We report on a 5-year-old Japanese male with bilateral PNH with overlying PMG. He had mild intellectual disability, distinctive facial features, short stature, and microcephaly, with cardiac disorders. No mutation was identified in Sanger sequences for FLNA and ARFGEF2; however, array comparative genomic hybridization revealed an approximately 0.8Mb gain at Xq26.1-26.2, which included three genes: IGSF1, OR13H1, and FIRRE. We identified the same 3-copy gain in his mother; despite identifying the same abnormality in the mother, it must still be considered as a possible cause for the abnormalities, as X-inactivation in the mother could have led to her not expressing the same phenotype. This case may provide important clues for identifying the genes responsible and help in the understanding of the pathogenesis of this disorder. What this paper adds: PNH with PMG has been observed in association with a copy number gain of Xq26.1-q26.2 containing the IGSF1, OR13H1, and FIRRE genes.

本文言語English
ページ(範囲)1221-1224
ページ数4
ジャーナルDevelopmental Medicine and Child Neurology
56
12
DOI
出版ステータスPublished - 2014 12 1

ASJC Scopus subject areas

  • 小児科学、周産期医学および子どもの健康
  • 発達神経科学
  • 臨床神経学

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