AB Kroigard

C Trapnell

CM Roifman

D Merico

F Jafarifar

GM Abdel-Salam

H He

HR Fairchild

J Hu

K Mandel

L Klinge

PE Gray

PJ Vries de

SP Robertson

U Braunschweig

AbstractRoifman syndrome (OMIM# 616651) is a complex syndrome encompassing skeletal dysplasia, immunodeficiency, retinal dystrophy and developmental delay, and is caused by compound heterozygous mutations involving the Stem II region and one of the other domains of the RNU4ATAC gene. This small nuclear RNA gene is essential for minor intron splicing. The Canadian Centre for Primary Immunodeficiency Registry and Repository were used to derive patient information as well as tissues. Utilising RNA sequencing methodologies, we analysed samples from patients with Roifman syndrome and assessed intron retention. We demonstrate that a homozygous mutation in Stem II is sufficient to cause the full spectrum of features associated with typical Roifman syndrome. Further, we demonstrate the same pattern of aberration in minor intron retention as found in cases with compound heterozygous mutations.</jats:p

Yael Dinur Schejter

Adi Ovadia

Roumiana Alexandrova

Bhooma Thiruvahindrapuram

Sergio L. Pereira

David E. Manson

Ajoy Vincent

Daniele Merico

Chaim M. Roifman

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npj Genomic Medicine

A homozygous mutation in the stem II domain of RNU4ATAC causes typical Roifman syndrome

A homozygous mutation in the stem II domain of RNU4ATAC causes typical Roifman syndrome

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