MIRAGE syndrome caused by a novel missense variant (p.Ala1479Ser) in the SAMD9 gene
Shinsuke Onuma, Tamaki Wada, Ryosuke Araki, Kazuko Wada, Kanako Tanase‐Nakao, Satoshi Narumi, Miho Fukui, Yasuko Shoji, Yuri Etani, Shinobu Ida, Masanobu Kawai
Abstract
Abstract MIRAGE syndrome is a recently identified disorder characterized by myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital phenotypes, and enteropathy. It is caused by a gain-of-function variant in the SAMD9 gene, but there is limited knowledge regarding the genotype–phenotype correlation. We herein report a Japanese patient with MIRAGE syndrome carrying a novel de novo heterozygous missense variant in the SAMD9 gene (c.4435 G > T; p.Ala1479Ser).
Topics & Concepts
Missense mutationPhenotypeGeneMedicineEnteropathyGeneticsHypoplasiaGenotypeBiologyPathologyInternal medicineDiseaseRenal and related cancersCongenital gastrointestinal and neural anomaliesEsophageal and GI Pathology