Case Report: Complete Maternal Uniparental Disomy of Chromosome 2 With a Novel UNC80 Splicing Variant c.5609-4G> A in a Chinese Patient With Infantile Hypotonia With Psychomotor Retardation and Characteristic Facies 2

Case Report: Complete Maternal Uniparental Disomy of Chromosome 2 With a Novel UNC80 Splicing Variant c.5609-4G> A in a Chinese Patient With Infantile Hypotonia With Psychomotor Retardation and Characteristic Facies 2

Background: Infantile hypotonia with psychomotor retardation and characteristic facies 2 (IHPRF2) is a rare autosomal recessive neurodevelopmental disorder caused by mutations in the UNC80 gene. It is characterized by severe global developmental delay, poor or absent speech and absent or limited wal...

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Bibliographic Details
Main Authors: Yilun Tao, Dong Han, Yiju Wei, Lihong Wang, Wenxia Song, Xiaoze Li
Format: Article
Language:English
Published: Frontiers Media S.A. 2021-09-01
Series:Frontiers in Genetics
Subjects:
maternal uniparental disomy
chromosome 2
UNC80 gene
SNP array
whole exome sequencing
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2021.747422/full

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https://www.frontiersin.org/articles/10.3389/fgene.2021.747422/full

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