TY - JOUR
T1 - The case of a patient with MIRAGE syndrome with familial dysautonomia-like symptoms
AU - Kawashima-Sonoyama, Yuki
AU - Okuno, Keisuke
AU - Dohmoto, Tomotsune
AU - Tanase-Nakao, Kanako
AU - Narumi, Satoshi
AU - Namba, Noriyuki
N1 - Funding Information:
We thank Dr. K. Adachi and Dr. E. Nanba for helping with ELP1 genetic analysis and Dr. J. Ueyama, Dr. H. Sano, Dr. N. Yoneda, Dr. N. Tamoto, Dr. Y. Mino, Dr. M. Fujimoto, and Dr. N. Miyahara for their contributions to this article. We thank the patient’s parents for their continued cooperation even 6 years after the patient’s death. This study was partly supported by grants from the National Center for Child Health and Development (2020B-3), JSPS (Kakenhi 19H03627), and Takeda Science Foundation.
Publisher Copyright:
© 2021, The Author(s).
PY - 2021/12
Y1 - 2021/12
N2 - We describe a case of posthumously diagnosed MIRAGE syndrome (Myelodysplasia, Infection, Restriction of growth, Adrenal hypoplasia, Genital problems, and Enteropathy) in a girl with a new pathogenic SAMD9 variant (p.F437S), who was initially considered to have familial dysautonomia (FD)-like disease due to increased levels of catecholamine metabolites. Functional analyses of F437S-SAMD9 were performed, showing characteristics of disease-causing variants. This new SAMD9 variant (p.F437S) also causes MIRAGE syndrome.
AB - We describe a case of posthumously diagnosed MIRAGE syndrome (Myelodysplasia, Infection, Restriction of growth, Adrenal hypoplasia, Genital problems, and Enteropathy) in a girl with a new pathogenic SAMD9 variant (p.F437S), who was initially considered to have familial dysautonomia (FD)-like disease due to increased levels of catecholamine metabolites. Functional analyses of F437S-SAMD9 were performed, showing characteristics of disease-causing variants. This new SAMD9 variant (p.F437S) also causes MIRAGE syndrome.
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U2 - 10.1038/s41439-021-00158-6
DO - 10.1038/s41439-021-00158-6
M3 - Article
AN - SCOPUS:85110493072
SN - 2054-345X
VL - 8
JO - Human Genome Variation
JF - Human Genome Variation
IS - 1
M1 - 27
ER -