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Compound heterozygous mutations in the noncoding RNU4ATAC cause Roifman Syndrome by disrupting minor intron splicing.

Abstract：

:Roifman Syndrome is a rare congenital disorder characterized by growth retardation, cognitive delay, spondyloepiphyseal dysplasia and antibody deficiency. Here we utilize whole-genome sequencing of Roifman Syndrome patients to reveal compound heterozygous rare variants that disrupt highly conserved positions of the RNU4ATAC small nuclear RNA gene, a minor spliceosome component that is essential for minor intron splicing. Targeted sequencing confirms allele segregation in six cases from four unrelated families. RNU4ATAC rare variants have been recently reported to cause microcephalic osteodysplastic primordial dwarfism, type I (MOPD1), whose phenotype is distinct from Roifman Syndrome. Strikingly, all six of the Roifman Syndrome cases have one variant that overlaps MOPD1-implicated structural elements, while the other variant overlaps a highly conserved structural element not previously implicated in disease. RNA-seq analysis confirms extensive and specific defects of minor intron splicing. Available allele frequency data suggest that recessive genetic disorders caused by RNU4ATAC rare variants may be more prevalent than previously reported.

journal_name

Nat Commun

journal_title

Nature communications

authors

Merico D,Roifman M,Braunschweig U,Yuen RK,Alexandrova R,Bates A,Reid B,Nalpathamkalam T,Wang Z,Thiruvahindrapuram B,Gray P,Kakakios A,Peake J,Hogarth S,Manson D,Buncic R,Pereira SL,Herbrick JA,Blencowe BJ,Roifman CM

doi

10.1038/ncomms9718

subject

Has Abstract

pub_date

2015-11-02 00:00:00

pages

8718

issn

2041-1723

pii

ncomms9718

journal_volume

6

pub_type

杂志文章

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