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Article

The novel and recurrent variants in exon 31 of CREBBP in Japanese patients with Menke-Hennekam syndrome.

American journal of medical genetics. Part A - 1 Feb 2022

Nishi Eriko, Takenouchi Toshiki, Miya Fuyuki, Uehara Tomoko, Yanagi Kumiko, Hasegawa Yuiko, Ueda Kimiko, Mizuno Seiji, Kaname Tadashi, Kosaki Kenjiro, Okamoto Nobuhiko

Abstract excerpt

Menke-Hennekam syndrome-1 (MKHK1) is a congenital disorder caused by the heterozygous variants in exon 30 or 31 of CREBBP (CREB binding protein) gene mapped on 16p13.3. It is characterized by psychomotor delay, variable impairment of intellectual disability (ID), feeding difficulty, autistic behavior, hearing impairment, short stature, microcephaly, and facial dysmorphisms. The CREBBP loss-of-function variants...

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PMID: 34652060
DOI: 10.1002/ajmg.a.62533

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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