Title

Novel blended SNRPE-related spliceosomopathy phenotype characterized by microcephaly and congenital atrichia.

Document Type

Article

Publication Date

5-2023

Identifier

DOI: 10.1002/ajmg.a.63149

Abstract

Variants in genes encoding core components of the spliceosomes are associated with craniofacial syndromes, collectively called craniofacial spliceosomopathies. SNRPE encodes a core component of pre-mRNA processing U-rich small nuclear ribonuclear proteins (UsnRNPs). Heterozygous variants in SNRPE have been reported in six families with isolated hypotrichosis simplex in addition to one case of isolated non syndromic congenital microcephaly. Here, we report a patient with a novel blended phenotype of microcephaly and congenital atrichia with multiple congenital anomalies due to a de novo intronic SNRPE deletion, c.82-28_82-16del, which results in exon skipping. As discussed within, this phenotype, which we propose be named SNRPE-related syndromic microcephaly and hypotrichosis, overlaps other craniofacial splicesosomopathies.

Journal Title

American journal of medical genetics. Part A

Volume

191

Issue

5

First Page

1425

Last Page

1429

MeSH Keywords

Humans; Microcephaly; Phenotype; Alopecia; Hypotrichosis; Abnormalities, Multiple; snRNP Core Proteins

Keywords

SNRPE; atrichia; microcephaly; multiple congenital anomalies; spliceosomes; spliceosomopathy

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