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MIRAGE syndrome caused by a novel missense variant (p.Ala1479Ser) in the SAMD9 gene

Shinsuke Onuma1, Tamaki Wada1, Ryosuke Araki2

  • 1Department of Gastroenterology, Nutrition, and Endocrinology, Osaka Women's and Children's Hospital, Osaka, Japan.

Human Genome Variation
|March 21, 2020
PubMed

Insights

MIRAGE syndrome, a rare genetic disorder, is linked to the SAMD9 gene. This study identifies a new de novo variant in a Japanese patient, advancing understanding of genotype-phenotype correlations in MIRAGE syndrome.

Area of Science:

  • Genetics
  • Rare Diseases
  • Molecular Biology

Background:

  • MIRAGE syndrome is a recently identified disorder characterized by myelodysplasia, infection, growth restriction, adrenal hypoplasia, genital phenotypes, and enteropathy.
  • The syndrome results from gain-of-function variants in the SAMD9 gene.
  • Limited information exists on genotype-phenotype correlations in MIRAGE syndrome.

Purpose of the Study:

  • To report a novel de novo SAMD9 gene variant in a Japanese patient with MIRAGE syndrome.
  • To contribute to the understanding of genotype-phenotype correlations in MIRAGE syndrome.

Main Methods:

  • Case report of a Japanese patient with MIRAGE syndrome.
  • Genetic analysis to identify variants in the SAMD9 gene.

Main Results:

  • A novel de novo heterozygous missense variant in the SAMD9 gene (c.4435G>T; p.Ala1479Ser) was identified in the patient.
  • This variant is associated with the clinical presentation of MIRAGE syndrome.

Conclusions:

  • The identification of this novel variant expands the known spectrum of SAMD9 mutations in MIRAGE syndrome.
  • This finding aids in further elucidating the genotype-phenotype correlation for this rare disorder.
Keywords:
Adrenal gland diseasesNext-generation sequencingRare variants

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