A 12Mb deletion at 7q33-q35 associated with autism spectrum disorders and primary amenorrhea.
An interstitial deletion of about 12Mb at 7q33-q36 was found in an adult female affected by autism and primary amenorrhea. Two genes, CNTNAP2 and NOBOX, both contained within the deletion region, have been recently associated with autism susceptibility and premature ovarian failure, respectively. Our findings reinforce the hypothesis that haploinsufficiency of both these genes is sufficient for autism development and occurrence of primary amenorrhea, confirming a previous case in which CNTNAP2 had been disrupted by a chromosome inversion and possibly enlarging the phenotype of ovarian function disturbances already demonstrated for NOBOX mutations.
Rossi
Elena
E
Biologia Generale e Genetica Medica, Università di Pavia, Pavia, Italy.
Verri
Anna Pia
AP
Patricelli
Maria Grazia
MG
Destefani
Valeria
V
Ricca
Ivana
I
Vetro
Annalisa
A
Ciccone
Roberto
R
Giorda
Roberto
R
Toniolo
Daniela
D
Maraschio
Paola
P
Zuffardi
Orsetta
O
D000328:Adult; D000568:Amenorrhea / Q000235:genetics*; D001321:Autistic Disorder / Q000235:genetics*; D002872:Chromosome Deletion; D002897:Chromosomes, Human, Pair 7; D005260:Female; D018398:Homeodomain Proteins / Q000235:genetics; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D008565:Membrane Proteins / Q000235:genetics; D009419:Nerve Tissue Proteins / Q000235:genetics; D014157:Transcription Factors / Q000235:genetics
C403049:CNTNAP2 protein, human; D018398:Homeodomain Proteins; D008565:Membrane Proteins; C506600:NOBOX protein, human; D009419:Nerve Tissue Proteins; D014157:Transcription Factors