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| Pitt–Hopkins syndrome ： ウィキペディア英語版 |
Pitt–Hopkins syndrome
Pitt–Hopkins syndrome is a rare genetic disorder characterized by developmental delay, a wide mouth, distinctive facial features, and intermittent hyperventilation followed by apnea. It is associated with an abnormality within chromosome 18: specifically, it is caused by an insufficient expression of the TCF4 gene.〔(【引用サイトリンク】url=http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610954 )〕
==Genetics==
The condition was first described in 1978 by Pitt and Hopkins in two unrelated patients.〔Pitt D, Hopkins I (1978) A syndrome of mental retardation, wide mouth and intermittent overbreathing. Aust Paed J 14(3):182-184〕
The genetic cause of this disorder was described in 2007.〔Amiel J, Rio M, de Pontual L, Redon R, Malan V, Boddaert N, Plouin P, Carter NP, Lyonnet S, Munnich A, Colleaux L (2007) Mutations in TCF4, encoding a class I basic helix-loop-helix transcription factor, are responsible for Pitt-Hopkins syndrome, a severe epileptic encephalopathy associated with autonomic dysfunction. Am. J. Hum. Genet. 80: 988-993〕 This disorder is due to a haploinsufficiency of the transcription factor 4 (TCF4) gene which is located on the long arm of chromosome 18 (18q21.2) The mutational spectrum appears to be 40% point mutations, 30% small deletions/insertions and 30% deletions. All appear to be ''de novo'' mutations and to date no risk factors have been identified.
A Pitt–Hopkins like phenotype has been assigned to autosomal recessive mutations of the contactin associated protein like 2 (CNTNAP2) gene on the long arm of chromosome 7 (7q33-q36) and the neurexin 1 alpha (NRXN1) gene on the short arm of chromosome 2 (2p16.3).〔Peippo M, Ignatius J (2012) Pitt-Hopkins Syndrome. Mol Syndromol 2(3-5):171-180〕
抄文引用元・出典: フリー百科事典『 ウィキペディア（Wikipedia）』
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