TY - JOUR
T1 - Novel MCA/ID syndrome with ASH1L mutation
AU - Okamoto, Nobuhiko
AU - Miya, Fuyuki
AU - Tsunoda, Tatsuhiko
AU - Kato, Mitsuhiro
AU - Saitoh, Shinji
AU - Yamasaki, Mami
AU - Kanemura, Yonehiro
AU - Kosaki, Kenjiro
N1 - Publisher Copyright:
© 2017 Wiley Periodicals, Inc.
PY - 2017/6
Y1 - 2017/6
N2 - 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.
AB - 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.
KW - ASH1L
KW - H3K36 methylation
KW - intellectual disability
KW - multiple congenital anomaly
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U2 - 10.1002/ajmg.a.38193
DO - 10.1002/ajmg.a.38193
M3 - Article
C2 - 28394464
AN - SCOPUS:85017444380
SN - 1552-4825
VL - 173
SP - 1644
EP - 1648
JO - American Journal of Medical Genetics, Part A
JF - American Journal of Medical Genetics, Part A
IS - 6
ER -