• Mutation; HGNC; HGNC:253; ADH5; Simple; c.564+1G>A (p.Leu188Profs*4); ClinVar=VCV000995826; Zygosity=Heterozygous; Note=Splice donor mutation (PubMed=33355142).
  
• Mutation; HGNC; HGNC:253; ADH5; Simple; p.Ala278Pro (c.832G>C); ClinVar=VCV000995827; Zygosity=Heterozygous (PubMed=33355142).
  
• Mutation; HGNC; HGNC:404; ALDH2; Simple; p.Glu504Lys (c.1510G>A) (p.Glu487Lys); ClinVar=VCV000018390; Zygosity=Heterozygous; Note=Allele ALDH2*2 (PubMed=33355142).
  

PubMed=33355142; DOI=10.1126/sciadv.abd7197; PMCID=PMC11206199
Oka Y., Hamada M., Nakazawa Y., Muramatsu H., Okuno Y., Higasa K., Shimada M., Takeshima H., Hanada K., Hirano T., Kawakita T., Sakaguchi H., Ichimura T., Ozono S., Yuge K., Watanabe Y., Kotani Y., Yamane M., Kasugai Y., Tanaka M., Suganami T., Nakada S., Mitsutake N., Hara Y., Kato K., Mizuno S., Miyake N., Kawai Y., Tokunaga K., Nagasaki M., Kito S., Isoyama K., Onodera M., Kaneko H., Matsumoto N., Matsuda F., Matsuo K., Takahashi Y., Mashimo T., Kojima S., Ogi T.
Digenic mutations in ALDH2 and ADH5 impair formaldehyde clearance and cause a multisystem disorder, AMeD syndrome.
Sci. Adv. 6:eabd7197.1-eabd7197.15(2020)

PubMed=33512438; DOI=10.1182/blood.2020009111
Mu A.-F., Hira A., Niwa A., Osawa M., Yoshida K., Mori M., Okamoto Y., Inoue K., Kondo K., Kanemaki M.T., Matsuda T., Ito E., Kojima S., Nakahata T., Ogawa S., Tanaka K., Matsuo K., Saito M.K., Takata M.
Analysis of disease model iPSCs derived from patients with a novel Fanconi anemia-like IBMFS ADH5/ALDH2 deficiency.
Blood 137:2021-2032(2021)