Emerging phenotypes linked to variants in SAMD9 and MIRAGE syndrome.

ABSTRACT:

Background

Heterozygous de novo variants in SAMD9 cause MIRAGE syndrome, a complex multisystem disorder involving Myelodysplasia, Infection, Restriction of growth, Adrenal hypoplasia, Genital phenotypes, and Enteropathy. The range of additional clinical associations is expanding and includes disrupted placental development, poor post-natal growth and endocrine features. Increasingly, milder phenotypic features such as hypospadias in small for gestational age (SGA) boys and normal adrenal function are reported. Some children present with isolated myelodysplastic syndrome (MDS/monosomy 7) without MIRAGE features.

Objective

We aimed to investigate: 1) the range of reported SAMD9 variants, clinical features, and possible genotype-phenotype correlations; 2) w

SUBMITTER: Suntharalingham JP 

PROVIDER: S-EPMC9433874 | biostudies-literature | 2022

REPOSITORIES: biostudies-literature