Section of Medical Genetics, Children's Hospital, King Fahad Medical City, Riyadh, Saudi Arabia.
Pathology and Clinical Laboratory Medicine Administration, Section of Molecular Pathology, King Fahad Medical City, Riyadh, Saudi Arabia.
Am J Med Genet A. 2020 Apr;182(4):785-791. doi: 10.1002/ajmg.a.61503. Epub 2020 Feb 18.
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 In this report, we present unpublished phenotypic data from the original family as well as six new subjects from four families who also presented with mild to moderate ID and dysmorphic features, and were found to harbor four previously unpublished homozygous or compound heterozygous variants in METTL23.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.
METTL23 属于一类甲基转移酶样蛋白（METTL）家族，可将甲基转移到各种底物上。最近，在来自三个家庭的患有智力障碍（ID）和不同程度的畸形特征的患者中发现了 METTL23 的致病纯合变异体。在本报告中，我们提供了原始家族的未发表的表型数据，以及来自四个家族的六个新个体的表型数据，他们也表现为轻度至中度 ID 和畸形特征，并且在 METTL23 中发现了四个以前未发表的纯合或复合杂合变异体。我们的报告进一步支持了该基因在常染色体隐性遗传 ID 中的作用，并强调了轻微但一致的面部特征。
