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Novel MCA/ID syndrome with ASH1L mutation
Author(s) -
Okamoto Nobuhiko,
Miya Fuyuki,
Tsunoda Tatsuhiko,
Kato Mitsuhiro,
Saitoh Shinji,
Yamasaki Mami,
Kanemura Yonehiro,
Kosaki Kenjiro
Publication year - 2017
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.38193
Subject(s) - microcephaly , intellectual disability , genetics , mutation , biology , gene
We identified a novel mutation in ASH1L in a patient with severe intellectual disability, growth failure, microcephaly, facial dysmorphism, myelination delay, and skeletal abnormalities. ASH1L is a histone methyltransferase that associates with the transcribed region of all active genes examined, including Hox genes. It catalyzes H3K36 methylation and plays important roles in development. There has been increasing evidence that heterozygous mutation of ASH1L is associated with ID and autism spectrum disorders. We suggest that ASH1L abnormalities may cause a novel MCA/ID syndrome.