Roifman syndrome;
Spondyloepiphseal dysplasia, retinal dystrophy, and antibody deficiency

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.

Congenital malformation

RNU4ATAC [HSA:5190] [KO:K13339]

PMID:16901296

PMID:26522830