Speech and language impairment and oromotor dyspraxia due to deletion of 7q31 that involves FOXP2.
We report detailed clinical, cytogenetic, and molecular findings in a girl with a deletion of chromosome 7q31-q32. This child has a severe communication disorder with evidence of oromotor dyspraxia, dysmorphic features, and mild developmental delay. She is unable to cough, sneeze, or laugh spontaneously. Her deletion is on the paternally inherited chromosome and includes the FOXP2 gene, which has recently been associated with speech and language impairment and a similar form of oromotor dyspraxia in at least three other published cases. We hypothesize that our patient's communication disorder and oromotor deficiency are due to haploinsufficiency for FOXP2 and that her dysmorphism and developmental delay are a consequence of the absence of the other genes involved in the microdeletion. We propose that this patient, together with others reported in the literature, may define a new contiguous gene deletion syndrome encompassing the 7q31-FOXP2 region. Cytogenetic and molecular analysis of this region should be considered for other individuals displaying similar characteristics.
Zeesman
Susan
S
Department of Pediatrics, McMaster University, Hamilton, Canada.
Nowaczyk
Małgorzata J M
MJ
Teshima
Ikuko
I
Roberts
Wendy
W
Cardy
Janis Oram
JO
Brian
Jessica
J
Senman
Lili
L
Feuk
Lars
L
Osborne
Lucy R
LR
Scherer
Stephen W
SW
D000015:Abnormalities, Multiple / Q000235:genetics / Q000473:pathology; D001072:Apraxias / Q000473:pathology*; D002675:Child, Preschool; D002871:Chromosome Banding; D002872:Chromosome Deletion; D002874:Chromosome Mapping; D002897:Chromosomes, Human, Pair 7 / Q000235:genetics*; D005260:Female; D051858:Forkhead Transcription Factors / Q000235:genetics*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D007806:Language Disorders / Q000473:pathology*; D018895:Microsatellite Repeats / Q000235:genetics; D013064:Speech Disorders / Q000473:pathology*
C465448:FOXP2 protein, human; D051858:Forkhead Transcription Factors