MEDNIK syndrome with a frame shift causing mutation in AP1S1 gene and literature review of the clinical features

İNCECİK F., BİŞGİN A., YILMAZ M.

METABOLIC BRAIN DISEASE, cilt.33, sa.6, ss.2065-2068, 2018 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Derleme
  • Cilt numarası: 33 Sayı: 6
  • Basım Tarihi: 2018
  • Doi Numarası: 10.1007/s11011-018-0313-4
  • Dergi Adı: METABOLIC BRAIN DISEASE
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.2065-2068
  • Anahtar Kelimeler: MEDNIK syndrome, Neuro-ichthyotic syndromes, AP1S1 mutation, DEFECT, YEAST
  • Çukurova Üniversitesi Adresli: Evet

Özet

MEDNIK syndrome is an autosomal recessive rare disease as one of the most recently described copper metabolism disorder characterized by intellectual disability, ichthyosis, hearing loss, peripheral neuropathy, enteropathy and keratodermia. Here in, we reported a case presented with ichthyosis and intellectual disability with MEDNIK syndrome that confirmed by mutation analysis in a Turkish child. She was finally diagnosed with MEDNIK syndrome by clinical findings, which were confirmed by molecular genetic testing. Sequencing of AP1S1 gene showed a homozygous insertion c.364dupG (NM_001283.4), which is predicted to cause a frameshift of the reading frame (p.D122Gfs*18). To our knowledge, this is the first case of MEDNIK syndrome from Turkey. Diagnosis of MEDNIK syndrome is still challenging and we hope that this case will contribute to further understanding.