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A Turkish patient with novel AHCY variants and presumed diagnosis of S‐adenosylhomocysteine hydrolase deficiency
Author(s) -
Bas Hasan,
Cilingir Oguz,
Tekin Neslihan,
Saylisoy Suzan,
Durak Aras Beyhan,
Uzay Elif,
Erzurumluoglu Gokalp Ebru,
Artan Sevilhan
Publication year - 2020
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.61489
Subject(s) - compound heterozygosity , medicine , biology , genetics , gene , allele
S‐adenosylhomocysteine hydrolase deficiency is an autosomal recessive neurometabolic disorder affecting the muscles, liver, and nervous system. The disease occurs by pathogenic variants of AHCY gene encoding S‐adenosylhomocysteine hydrolase (AHCY) enzyme. This article reports a patient with presumed AHCY deficiency who was diagnosed by whole exome sequencing due to compound heterozygosity of novel p.T57I (c.170C>T) and p.V217M (c.649G>A) variants of AHCY gene. The patient had diffuse edema, coagulopathy, central nervous system abnormalities, and hypotonia. She died in 3 months due to cardiovascular collapse. Clinical findings of the present case were compatible with previously reported AHCY deficiency patients and the novel variants we found are considered to be the cause of the symptoms. This article also compiles the previous reports and expands clinical spectrum of AHCY deficiency by adding new features.