Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Query: UMLS:C0033377 (
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11,717
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
The
paired box 6
(
PAX6
) is a transcription factor expressed early in development, predominantly in the eye, brain and pancreas. Mutations in
PAX6
are responsible for eye abnormalities including aniridia, and it is also known that some
PAX6
mutations result in autism with incomplete penetrance. We resequenced all the exons and flanking introns of
PAX6
in 285 autistic patients in the Japanese, with the possibility that novel mutations may underlie autism. Fifteen different polymorphisms were identified: 13 are novel, and 2 were previously reported (rs667773 and rs3026393). Among the novel ones, there is one missense mutation that was found in a patient: 136C>G (Leu46Val) (single nucleotide polymorphism ID "ss130452457" is temporarily assigned). Leu46 is extremely conserved from fly to human, and we did not detect Val46 in 2120 nonautistic subjects. The autistic patient carrying this heterozygous mutation showed reduced vision, photophobia and eyelid
ptosis
, but no other ocular abnormality such as aniridia. Our findings suggest the necessity of further studies on the causal relationship between
PAX6
and autism.
...
PMID:A novel missense mutation (Leu46Val) of PAX6 found in an autistic patient. 1960 81
