UFSP2-related spondyloepimetaphyseal dysplasia: A confirmatory report.

In this report, we describe a boy with spondyloepimetaphyseal dysplasia due to a novel mutation exon 11: c.1283A  >  G (leading to p. H428R) of the UFSP2 gene. This is the second report to describe children with SEMDs associated with an UFSP2 variant. However, it is the first to describe a UFSP2 gene mutation exon 11: c.1283A  >  G (leading to p. H428R). Our findings of a novel heterozygous mutation of UFSP2 gene add to the list of 2 reported heterozygous mutations of UFSP2 which led to hereditary osteopathy.
PMID: 32755715 [PubMed - as supplied by publisher]

Source: European Journal of Medical Genetics - August 1, 2020 Category: Genetics & Stem Cells Authors: Zhang G, Tang S, Wang H, Pan H, Zhang W, Huang Y, Kong J, Wang Y, Gu J, Wang Y Tags: Eur J Med Genet Source Type: research