1p21.3, dihydropyrimidine dehydrogenase, autism

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You might contact one of the researchers re: duplication.

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Hemizygous deletions on chromosome 1p21.3 involving the DPYD gene in

individuals with autism spectrum disorder.

<http://www.ncbi.nlm.nih.gov/pubmed/21114665>

M, Nikkel S, Fernandez B, Marshall C, Noor A, Lionel A, Prasad A,

Pinto D, ph- A, Noakes C, Fairbrother-Davies C, W,

J, Weksberg R, Scherer S.

Clin Genet. 2010 Oct 23. doi: 10.1111/j.1399-0004.2010.01578.x

Hemizygous deletions on chromosome 1p21.3 involving the DPYD gene in

individuals with autism spectrum disorder. We describe the

identification and clinical presentation of four individuals from three

unrelated families with hemizygous deletions involving the DPYD gene at

chromosome 1p21.3. DPYD encodes dihydropyrimidine dehydrogenase, which

is the initial and rate-limiting enzyme in the catabolism of pyrimidine

bases. All four individuals described met diagnostic criteria for autism

spectrum disorder with severe speech delay. Patient 1's deletion was

originally reported in 2008, and more detailed clinical information is

provided. Subsequently, this male individual was found to have a

missense mutation in the X-linked PTCHD1 autism susceptibility gene,

which may also contribute to the phenotype. Patients 2 and 3 are

siblings with a novel deletion encompassing the DPYD gene. In their

mother, the genomic region deleted from chromosome 1p21.3 was inserted

into chromosome 10. A fourth proband had a novel 10-kb intragenic

deletion of exon 6 of the DPYD gene detected on a higher resolution

microarray. Our study suggests that hemizygous deletions involving the

DPYD locus present with variable phenotypes which can include speech

delay and autistic features, and may also be influenced by additional

mutations in other genes, issues which need to be considered in genetic

counseling.