A NEONATE PRESENTING WITH GRACILE SYNDROME AND NORNSTAD PHENOTYPE ASSOCIATED WITH BCS1L MUTATION

Akduman H., Eminoglu T., Okulu E., Erdeve Ö., Atasay B., Arsan S.

GENETIC COUNSELING, cilt.27, sa.4, ss.509-512, 2016 (SCI-Expanded) identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 27 Sayı: 4
  • Basım Tarihi: 2016
  • Dergi Adı: GENETIC COUNSELING
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED)
  • Sayfa Sayıları: ss.509-512
  • Anahtar Kelimeler: GRACILE syndrome, BCS1L mutation, Hearing loss, Bjornstad, COMPLEX III DEFICIENCY, IRON-OVERLOAD, GENE
  • Ankara Üniversitesi Adresli: Evet

Özet

A neonate presenting with GRACILE syndrome and Bjornstad phenotype associated with BCS1L mutation: GRACILE Syndrome, is an autosomal recessive disease presenting with growth retardation, severe lactic acidosis, Fanconi type tubulopathy, cholestasis, iron overload and early death without any dysmorphological or neurological features. The BCS1L gene mutation is responsible for GRACILE syndrome, Bjornstad syndrome and complex III deficiency. Bjornstad syndrome is characterized by sensorineural hearing loss and abnormal flat twisted hair shafts. The case is GRACILE syndrome with Bjornstad phenotype in neonatal period due to BCSL1 gene mutation.