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

Lerat Justine; Cintas Pascal; Beauvais-Dzugan HeleneMagdelaine CorinneSturtz FranckLia Anne-Sophie

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

机译：一个复杂的纯合子突变ABHD12负责PHARC综合症发现门店和文献之回顾

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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 (- 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.

机译：PHARC综合征(MIM612674)是一种常染色体隐性退行性神经病理导致脱髓鞘多神经病,听力损失,小脑性共济失调、色素性视网膜炎早发性白内障(PHARC)。症状出现在不同的年龄。综合征是由突变引起ABHD12 (-水解酶域12),其中几个描述。纯合子突变

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来源
《Journal of the peripheral nervous system :》 |2017年第2期|77-84|共8页
作者
Lerat Justine; Cintas Pascal; Beauvais-Dzugan HeleneMagdelaine CorinneSturtz FranckLia Anne-Sophie;
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作者单位

Univ Limoges, Neuropathies Peripher & Maintenance Myelin EA6309, Limoges, France;

Hop Pierre Paul Riquet, CHU Toulouse, Ctr Reference Pathol Neuromusculaire, Ctr SLA,Explorat;

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正文语种英语
中图分类神经病学与精神病学;
关键词
Genotype-Phenotype Associations; Charcot-Marie-Tooth Disease; Literature ReviewNeuropathyMutationSyndromesPolyneuropathiesDeafness;

机译：Genotype-Phenotype关联;Charcot-Marie-Tooth疾病;文学;

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

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