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Expanding the clinical and molecular spectrum of PRMT7 mutations: 3 additional patients and review
Author(s) -
Agolini E.,
Dentici M.L.,
Bellacchio E.,
Alesi V.,
Radio F.C.,
Torella A.,
Musacchia F.,
Tartaglia M.,
Dallapiccola B.,
Nigro V.,
Digilio M.C.,
Novelli A.
Publication year - 2018
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/cge.13137
Subject(s) - brachydactyly , genetics , biology , exome sequencing , mutation , gene , intellectual disability , global developmental delay , short stature , rna splicing , arginine , exon , phenotype , compound heterozygosity , endocrinology , amino acid , rna
Protein arginine methyltransferase 7 (PRMT7) is a member of a family of enzymes that catalyze the transfer of methyl groups from S‐adenosyl‐l‐methionine to nitrogen atoms on arginine residues. Arginine methylation is involved in multiple biological processes, such as signal transduction, mRNA splicing, transcriptional control, DNA repair, and protein translocation. Currently, 7 patients have been described harboring compound heterozygous or homozygous variants in the PRMT7 gene, causing a novel intellectual disability syndrome, known as SBIDDS syndrome (Short Stature, Brachydactyly, Intellectual Developmental Disability, and Seizures). We report on 3 additional patients from 2 consanguineous families with severe/moderate intellectual disability, short stature, brachydactyly and dysmorphisms. Exome sequencing revealed 2 novel homozygous mutations in PRMT7 . Our findings expand the clinical and molecular spectrum of homozygous PRMT7 mutations, associated to the SBIDDS syndrome, showing a possible correlation between the type of mutation and the severity of the phenotype.