张力减退
遗传学
表型
疾病
生物
粒线体疾病
等位基因
线粒体DNA
罕见病
医学
生物信息学
儿科
病理
基因
作者
Steven Lang,Francesca Camponeschi,Evan de Joya,Paulo Borjas‐Mendoza,Mustafa Tekin,Willa Thorson
出处
期刊:Genes
[Multidisciplinary Digital Publishing Institute]
日期:2022-11-06
卷期号:13 (11): 2044-2044
被引量:6
标识
DOI:10.3390/genes13112044
摘要
Multiple mitochondrial dysfunction syndrome type 3 (MMDS3) is a rare mitochondrial leukoencephalopathy caused by biallelic pathogenic variants in IBA57. Here, we describe a homozygous variant in IBA57, (NM_001010867.2): c.310G>T (p.Gly104Cys), in a 2-month-old infant of Cuban descent who presented with a one-month history of progressive hypotonia, weakness, and episodes of upgaze deviation. This is the first report of a patient homozygous for this variant and the first report of MMDS3 in a patient of Hispanic descent described to our knowledge. Using in silico tools, we found that the variant resides in a putative mutational hotspot located in the neighborhood of a key active ligand required for iron-sulfur cluster coordination. In addition, while previous case reports/series have reported the variable phenotypic features of the disease, the incidence of these features across the literature has not been well described. In order to construct a clearer global picture of the typical presentation of MMDS3, we reviewed 52 cases across the literature with respect to their clinical, biochemical, genotypic, and neuroradiographic features.
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