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

Submitted: 1 April 2021
Accepted: 30 April 2021
Published: 12 May 2021
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  • Daniela Tavian Laboratory of Cellular Biochemistry and Molecular Biology, CRIBENS, Università Cattolica del Sacro Cuore, Milan, Italy; Department of Psychology, Università Cattolica del Sacro Cuore, Milan, Italy.
  • Murat Durdu Baskent University Faculty of Medicine, Department of Dermatology, Adana Hospital, Adana, Turkey.
  • Corrado Angelini Neuromuscular Laboratory, Department of Neurosciences, University of Padova, Campus Biomedico Pietro d’Abano, Padua, Italy.
  • Enza Torre Laboratory of Cellular Biochemistry and Molecular Biology, CRIBENS, Università Cattolica del Sacro Cuore, Milan, Italy; Department of Psychology, Università Cattolica del Sacro Cuore, Milan, Italy.
  • Sara Missaglia Laboratory of Cellular Biochemistry and Molecular Biology, CRIBENS, Università Cattolica del Sacro Cuore, Milan, Italy; Department of Psychology, Università Cattolica del Sacro Cuore, Milan, Italy.

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.

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Tavian, D., Durdu, M., Angelini, C., Torre, E., & Missaglia, S. (2021). Recurrent N209* ABHD5 mutation in two unreported families with Chanarin Dorfman Syndrome. European Journal of Translational Myology, 31(2).


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