Further delineation of METTL23-associated intellectual disability

被引：9

作者：

Almannai, Mohammed ^{[1
]}

Obaid, Osama ^{[1
]}

Faqeih, Eissa ^{[1
]}

Alasmari, Ali ^{[1
]}

Samman, Manar M. ^{[2
]}

Pinz, Hailey ^{[3
,4
]}

Braddock, Stephen R. ^{[3
,4
]}

Alkuraya, Fowzan S. ^{[5
,6
]}

机构：

[1] King Fahad Med City, Childrens Hosp, Med Genet Sect, Riyadh, Saudi Arabia

[2] King Fahad Med City, Sect Mol Pathol, Pathol & Clin Lab Med Adm, Riyadh, Saudi Arabia

[3] SSM Hlth Cardinal Glennon Childrens Med Ctr, Div Med Genet, St Louis, MO USA

[4] St Louis Univ Hosp, Dept Pediat, St Louis, MO USA

[5] King Faisal Specialist Hosp & Res Ctr, Dept Genet, MBC 03 POB 3354, Riyadh 11211, Saudi Arabia

[6] Alfaisal Univ, Coll Med, Dept Anat & Cell Biol, Riyadh, Saudi Arabia

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS PART A | 2020年 / 182卷 / 04期

关键词：

developmental delay; dysmorphic features; intellectual disability; methyltransferase; METTL23; TRANSCRIPTION FACTOR; METTL23;

D O I：

10.1002/ajmg.a.61503

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

METTL23 belongs to a family of methyltransferase like proteins (METTL) that transfer methyl group to various substrates. Recently, pathogenic homozygous variants in METTL23 were identified in patients from three families who presented with intellectual disability (ID) and variable dysmorphic features. In this report, we present unpublished phenotypic data from the original family as well as six new subjects from four families who also presented with mild to moderate ID and dysmorphic features, and were found to harbor four previously unpublished homozygous or compound heterozygous variants in METTL23. Our report further supports the role of this gene in autosomal recessive ID and emphasizes the mild but consistent facial features.

引用

页码：785 / 791

页数：7

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