Roifman syndrome
Definition:
Roifman syndrome is a multi-system disorder with a physical phenotype that includes B-cell immunodeficiency, intra-uterine and postnatal growth retardation, spondyloepiphyseal dysplasia, retinal dystrophy, and characteristic facial dysmorphism. Recently, whole-genome sequencing of Roifman syndrome patients have demonstrated that Roifman syndrome is caused by compound heterozygous single-nucleotide variants (SNVs) in the minor spliceosomal small nuclear RNA (snRNA) gene RNU4ATAC, which was already implicated in a severe congenital disorder, microcephalic osteodysplastic primordial dwarfism, type I (MOPD1) [DS:H00993]. Roifman syndrome is phenotypically distinct from MOPD1.
References:
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[1]. Daniele Merico, et al. Compound heterozygous mutations in the noncoding RNU4ATAC cause Roifman Syndrome by disrupting minor intron splicing. Nat Commun. 2015 Nov 2;6:8718. [Content Brief]
[2]. P J de Vries, et al. The cognitive and behavioural phenotype of Roifman syndrome. J Intellect Disabil Res. 2006 Sep;50(Pt 9):690-6. [Content Brief]
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