Recurrent N209* ABHD5 mutation in two unreported families with Chanarin Dorfman Syndrome

Daniela Tavian, Sara Missaglia, Enza Torre, Murat Durdu, Corrado Angelini

Risultato della ricerca: Contributo in rivistaArticolo in rivistapeer review

Abstract

ABHD5 protein is widely involved in lipid and energy homeostasis. Mutations in the ABHD5 gene are associated with the onset of Neutral Lipid Storage Disease with Ichthyosis (NLSDI), historically known as Chanarin Dorfman Syndrome (CDS). CDS is a rare autosomal recessive lipid storage disease, characterized by non-bullous congenital ichthyosiform eritrhoderma (NCIE), hepatomegaly and liver steatosis. Myopathy, neurosensory hearing loss, cataracts, nystagmus, strabismus, and mental impairment are considered additional findings. To date, 151 CDS patients have been reported all over the world. Here we described two additional families with patients affected by CDS from Turkey. Our patients were a 42 and 22-years old men, admitted to the Hospital for congenital ichthyosis. Hepatic steatosis and myopathy were also detected in both patients. ABHD5 molecular analysis revealed the presence of N209* mutation. Our data enlarge the cohort of CDS patients and provide a revision of muscle clinical findings for this rare inborn error of neutral lipid metabolism.
Lingua originaleEnglish
pagine (da-a)N/A-N/A
RivistaEuropean Journal of Translational Myology
Volume31
DOI
Stato di pubblicazionePubblicato - 2021

Keywords

  • ABHD5 mutations
  • Chanarin Dorfman syndrome
  • Lipid droplets
  • Lipid metabolism defect
  • Myopathy

Fingerprint

Entra nei temi di ricerca di 'Recurrent N209* ABHD5 mutation in two unreported families with Chanarin Dorfman Syndrome'. Insieme formano una fingerprint unica.

Cita questo