De-novo balanced translocation between 7q31 and 10p14 in a girl with central precocious puberty, moderate mental retardation, and severe speech impairment

Tomoki Kosho, Satoru Sakazume, Hiroshi Kawame, Keiko Wakui, Takahito Wada, Yumi Okoshi, Makoto Mikawa, Tomonobu Hasegawa, Nobuo Matsuura, Norio Niikawa, Naomichi Matsumoto, Yoshimitsu Fukushima

研究成果: Article査読

8 被引用数 (Scopus)

抄録

No causative gene has been found for idiopathic central precocious puberty; and FOXP2, located in 7q31, is the only known gene for speech and language disturbances. We report a girl with central precocious puberty, moderate mental retardation, and severe speech impairment; accompanied by a de-novo balanced translocation between 7q31 and 10p14. Physical mapping through molecular cytogenetic investigations demonstrated the breakpoints of 7q31 and 10p14 within a bacterial artificial chromosome (BAC) clone RP11-124G5 and a cosmid clone derived from a BAC clone RP11-1122C18, respectively. FOXP2 was found to be localized approximately 500 kb distant from the centromeric end of the disrupted BAC RP11-124G5 at the 7q31 breakpoint. Speech impairment in the girl might be derived from dysfunction of FOXP2 by a position effect of the 7q31 translocation breakpoint.

本文言語English
ページ(範囲)31-34
ページ数4
ジャーナルClinical Dysmorphology
17
1
DOI
出版ステータスPublished - 2008 1 1
外部発表はい

ASJC Scopus subject areas

  • 小児科学、周産期医学および子どもの健康
  • 解剖学
  • 病理学および法医学
  • 遺伝学(臨床)

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