De-novo balanced translocation between 7q31 and 10p14 in a girl with central precocious puberty, moderate mental retardation, and severe speech impairment.
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.
Kosho
Tomoki
T
Department of Medical Genetics, Shinshu University School of Medicine, Matsumoto Division of Medical Genetics, Nagano Children's Hospital, Azumino Department of Pediatrics, Kitami Red Cross Hospital, Kitami Department of Pediatrics, Keio University School of Medicine, Tokyo Department of Pediatrics, Kitasato University School of Medicine, Sagamihara Department of Human Genetics, Nagasaki University School of Medicine, Nagasaki Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
Sakazume
Satoru
S
Kawame
Hiroshi
H
Wakui
Keiko
K
Wada
Takahito
T
Okoshi
Yumi
Y
Mikawa
Makoto
M
Hasegawa
Tomonobu
T
Matsuura
Nobuo
N
Niikawa
Norio
N
Matsumoto
Naomichi
N
Fukushima
Yoshimitsu
Y
D002675:Child, Preschool; D022202:Chromosomes, Artificial, Bacterial; D002879:Chromosomes, Human, Pair 10; D002897:Chromosomes, Human, Pair 7; D005260:Female; D051858:Forkhead Transcription Factors / Q000235:genetics; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D013064:Speech Disorders / Q000235:genetics*; D014178:Translocation, Genetic
C465448:FOXP2 protein, human; D051858:Forkhead Transcription Factors