期刊
PEDIATRIC AND DEVELOPMENTAL PATHOLOGY
卷 26, 期 2, 页码 161-165出版社
SAGE PUBLICATIONS INC
DOI: 10.1177/10935266231151773
关键词
autopsy; dysmorphology; kidney; liver; metabolic; neuropathology
We report a case of a newborn with symmetric growth restriction, facial dysmorphism, ichthyosis, hepatomegaly, renal cysts, cerebral dilatation, and pontocerebellar hypoplasia, associated with a novel MPDU1 gene variant. Based on this observation, CDG should be included in the diagnosis of infantile ciliopathy-like disorder.
Congenital disorders of glycosylation (CDG) are associated with ciliary dysfunction due to altered glycosylation of ciliary glycoproteins. We describe a severe ciliopathy-like phenotype in a female infant associated with a novel homozygous missense variant NM_004870.4(MPDU1):c.503G>A/p.Gly168Glu. Our findings, based on the co-segregation of the variant with the phenotype and in-silico analysis, implicate this MPDU1 missense variant in this disorder. Matched phenotype includes symmetric growth restriction, facial dysmorphism, ichthyosis, hepatomegaly with severe duct plate malformation, renal cortical tubular and glomerular cysts, moderate cerebral tetraventricular dilatation, and severe pontocerebellar hypoplasia. According to this observation, CDG should be included in the workup of infantile ciliopathy-like disorder.
作者
我是这篇论文的作者
点击您的名字以认领此论文并将其添加到您的个人资料中。
推荐
暂无数据