Molecular genetic delineation of a deletion of chromosome 13q12-->q13 in a patient with autism and auditory processing deficits.
In a sporadic case of autism and language deficit due to auditory processing defects, molecular genetic studies revealed that a chromosomal deletion occurred in the 13q12-->q13 region. No chromosome abnormalities were detected in the parents. We determined that the deletion occurred on the paternally derived chromosome 13. There are two previous reports of chromosome 13 abnormalities in patients with autism. The deletion in the subject described in this paper maps between the two chromosome 13 linkage peaks described by Bradford et al. (2001) in studies of subjects with autism and language deficits. The 9-Mb region deleted in the patient described here contains at least four genes that are expressed in brain and that play a role in brain development. They are NBEA, MAB21L1, DCAMKL1 and MADH9. These genes therefore represent candidate genes for autism and specific language deficits.
Smith
M
M
Department of Pediatrics, Medical Science I, Room 237, CCM, University of California-Irvine, Irvine, CA 92697, USA. dmsmith@uci.edu
Woodroffe
A
A
Smith
R
R
Holguin
S
S
Martinez
J
J
Filipek
P A
PA
Modahl
C
C
Moore
B
B
Bocian
M E
ME
Mays
L
L
Laulhere
T
T
Flodman
P
P
Spence
M A
MA
D001321:Autistic Disorder / Q000235:genetics*; D002675:Child, Preschool; D002869:Chromosome Aberrations; D002874:Chromosome Mapping; D002882:Chromosomes, Human, Pair 13; D008040:Genetic Linkage; D006311:Hearing Disorders / Q000235:genetics*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007806:Language Disorders / Q000235:genetics; D008297:Male; D013067:Speech Perception