Back to Search
Start Over
MIRAGE syndrome caused by a novel missense variant (p.Ala1479Ser) in the SAMD9 gene
- Source :
- Human Genome Variation, Vol 7, Iss 1, Pp 1-4 (2020)
- Publication Year :
- 2020
- Publisher :
- Nature Publishing Group, 2020.
-
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).
- Subjects :
- Genetics
0303 health sciences
lcsh:QH426-470
Adrenal hypoplasia
lcsh:Life
Biology
MIRAGE SYNDROME
medicine.disease
Biochemistry
Phenotype
DNA sequencing
03 medical and health sciences
lcsh:Genetics
lcsh:QH501-531
0302 clinical medicine
030220 oncology & carcinogenesis
medicine
Missense mutation
Enteropathy
Molecular Biology
Gene
030304 developmental biology
Subjects
Details
- Language :
- English
- Volume :
- 7
- Issue :
- 1
- Database :
- OpenAIRE
- Journal :
- Human Genome Variation
- Accession number :
- edsair.doi.dedup.....3a14d0519f90846f7bdca529929b2758