A complex homozygous mutation in ABHD12 responsible for PHARC syndrome discovered with NGS and review of the literature

We report here a new complex homozygous mutation c.379_385delAACTACTinsGATTCCTTATATACCATTGTAGTCTTACTGCTTTTGGTGAACACA (p.Asn127Aspfs*23). This mutation was detected in a 36‐year‐old man, who presented neuropathic symptoms from the age of 15, using a NGS panel. This result suggests that the involvement of ABHD12 in polyneuropathies is possibly underestimated. We then performed a comparative study of other patients presenting ABHD12 mutations and searched for genotype‐phenotype correlations and functional explanations in this heterogeneous population.

http://onlinelibrary.wiley.com/resolve/doi?DOI=10.1111%2Fjns.12216

Source: Journal of the Peripheral Nervous System - April 27, 2017 Category: Neurology Authors: Justine Lerat, Pascal Cintas, H élène Beauvais‐Dzugan, Corinne Magdelaine, Franck Sturtz, Anne‐Sophie Lia Tags: REVIEW Source Type: research