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
Recommended Citation
Amudhavalli SM, Paolillo V, Lawson C, et al. Novel blended SNRPE-related spliceosomopathy phenotype characterized by microcephaly and congenital atrichia. Am J Med Genet A. 2023;191(5):1425-1429. doi:10.1002/ajmg.a.63149
COinS
