A new entity in the NARS2 variant: The first reported case of type 1 diabetes mellitus associated with the phenotype

ÇOKYAMAN T., Cetin H., DOĞAN D., SILAN F.

Journal of Tropical Pediatrics, cilt.69, sa.1, 2023 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 69 Sayı: 1
  • Basım Tarihi: 2023
  • Doi Numarası: 10.1093/tropej/fmac108
  • Dergi Adı: Journal of Tropical Pediatrics
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Academic Search Premier, PASCAL, CAB Abstracts, CINAHL, EMBASE, Index Islamicus, MEDLINE, Veterinary Science Database
  • Anahtar Kelimeler: NARS2, epilepsy, mitochondrial disease, whole-exome sequencing
  • Çanakkale Onsekiz Mart Üniversitesi Adresli: Evet

Özet

NARS2 mutations are known to cause various clinical phenotypes such as nonsyndromic hearing loss, Leigh/Alpers syndrome, refractory epilepsy, developmental delay, intellectual disability and myopathy. We presented the first Turkish variant of NASR2 and added type 1 diabetes mellitus (DM), which was not previously described in the phenotype spectrum of this disease. A 4.5-month-old girl presented with hearing loss, hypotonia, refractory myoclonic epilepsy, severe developmental delay and large subdural hemorrhage. In the first year of the follow-up, type 1 DM developed. A homozygous missense mutation, [c.500 A>G, p.H167R] in the NARS2 gene was detected in the trio-based whole-exome sequencing (WES). In this disease, in addition to multi-organ involvement, type 1 DM may also develop, as in our case. Since it is a mitochondrial disease, the decision to treat with valproic acid should be reconsidered. The long diagnostic process can be shortened with WES.