https://doi.org/10.4081/ejtm.2021.9796
Recurrent N209* ABHD5 mutation in two unreported families with Chanarin Dorfman Syndrome
Submitted: 1 April 2021
Accepted: 30 April 2021
Published: 12 May 2021
Accepted: 30 April 2021
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All claims expressed in this article are solely those of the authors and do not necessarily represent those of their affiliated organizations, or those of the publisher, the editors and the reviewers. Any product that may be evaluated in this article or claim that may be made by its manufacturer is not guaranteed or endorsed by the publisher.
Authors
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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How to Cite
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). https://doi.org/10.4081/ejtm.2021.9796
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