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

Clin Dysmorphol. 2008 Jan;17(1):31-34. doi: 10.1097/MCD.0b013e3282f17688.

Abstract

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.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Child, Preschool
  • Chromosomes, Artificial, Bacterial
  • Chromosomes, Human, Pair 10*
  • Chromosomes, Human, Pair 7*
  • Female
  • Forkhead Transcription Factors / genetics
  • Humans
  • Intellectual Disability / genetics*
  • Speech Disorders / genetics*
  • Translocation, Genetic*

Substances

  • FOXP2 protein, human
  • Forkhead Transcription Factors