A Turkish patient with novel AHCY variants and presumed diagnosis of S-adenosylhomocysteine hydrolase deficiency

BAŞ H., ÇİLİNGİR O., TEKİN N., ŞAYLISOY S., DURAK ARAS B., Uzay E., ...Daha Fazla

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, cilt.182, sa.4, ss.740-745, 2020 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 182 Sayı: 4
  • Basım Tarihi: 2020
  • Doi Numarası: 10.1002/ajmg.a.61489
  • Dergi Adı: AMERICAN JOURNAL OF MEDICAL GENETICS PART A
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, BIOSIS, CAB Abstracts, EMBASE, MEDLINE
  • Sayfa Sayıları: ss.740-745
  • Anahtar Kelimeler: AHCY, metabolic disorders, S-adenosylhomocysteine hydrolase deficiency, WES
  • Eskişehir Osmangazi Üniversitesi Adresli: Evet

Özet

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.