| Title : A complex homozygous mutation in ABHD12 responsible for PHARC syndrome discovered with NGS and review of the literature - Lerat_2017_J.Peripher.Nerv.Syst_22_77 |
| Author(s) : Lerat J , Cintas P , Beauvais-Dzugan H , Magdelaine C , Sturtz F , Lia AS |
| Ref : J Peripher Nerv Syst , 22 :77 , 2017 |
| Abstract : PHARC syndrome (MIM612674) is an autosomal recessive neurodegenerative pathology that leads to demyelinating Polyneuropathy, Hearing loss, cerebellar Ataxia, Retinitis pigmentosa, and early-onset Cataracts (PHARC). These various symptoms can appear at different ages. PHARC syndrome is caused by mutations in ABHD12 (alpha-beta hydrolase domain 12), of which several have been described. 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 next-generation sequencing 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. |
| ESTHER : Lerat_2017_J.Peripher.Nerv.Syst_22_77 |
| PubMedSearch : Lerat_2017_J.Peripher.Nerv.Syst_22_77 |
| PubMedID: 28448692 |
| Gene_locus related to this paper: human-ABHD12 |
| Gene_locus related to this paper: human-ABHD12 |
Lerat J, Cintas P, Beauvais-Dzugan H, Magdelaine C, Sturtz F, Lia AS (2017)
A complex homozygous mutation in ABHD12 responsible for PHARC syndrome discovered with NGS and review of the literature
J Peripher Nerv Syst
22 :77
Lerat J, Cintas P, Beauvais-Dzugan H, Magdelaine C, Sturtz F, Lia AS (2017)
J Peripher Nerv Syst
22 :77