HINT1 founder mutation causing axonal neuropathy with neuromyotonia in South America: A case report

Abstract Background Recessive loss‐of‐function mutations in HINT1 are associated with predominantly motor axonal peripheral neuropathy with neuromyotonia. Twenty‐four distinct pathogenic variants are reported all over the world, including four confirmed founder variations in Europe and Asia. The maj...

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Autores principales:	Bianca deAguiar Coelho Silva Madeiro, Kristien Peeters, Elker Lene Santos de Lima, Silvia Amor‐Barris, Els De Vriendt, Albena Jordanova, Maria Tereza Cartaxo Muniz, Carolina da Cunha Correia
Formato:	article
Lenguaje:	EN
Publicado:	Wiley 2021
Materias:	Charcot–Marie–Tooth disease founder effect HINT1 inherited peripheral neuropathy neuromyotonia Genetics QH426-470
Acceso en línea:	https://doaj.org/article/8751b0dbad844852a1befa242ef5bb1e
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spelling	oai:doaj.org-article:8751b0dbad844852a1befa242ef5bb1e2021-11-10T16:39:24ZHINT1 founder mutation causing axonal neuropathy with neuromyotonia in South America: A case report2324-926910.1002/mgg3.1783https://doaj.org/article/8751b0dbad844852a1befa242ef5bb1e2021-10-01T00:00:00Zhttps://doi.org/10.1002/mgg3.1783https://doaj.org/toc/2324-9269Abstract Background Recessive loss‐of‐function mutations in HINT1 are associated with predominantly motor axonal peripheral neuropathy with neuromyotonia. Twenty‐four distinct pathogenic variants are reported all over the world, including four confirmed founder variations in Europe and Asia. The majority of patients carry the ancient Slavic founder variant c.110G>C (p.Arg37Pro) that shows a distribution gradient from east to west throughout Europe. Methods We report a case of HINT1 neuropathy in South America, identified by massive parallel sequencing of a neuropathy gene panel. To investigate the origin of the variant, we performed haplotyping analysis. Results A Brazilian adolescent presented with recessive axonal motor neuropathy with asymmetric onset and fasciculations. Neuromyotonia was found on needle electromyography. His parents were not consanguineous and had no European ancestry. The patient carried biallelic pathogenic p.Arg37Pro alterations in the first exon of HINT1. Both alleles were identical by descent and originated from the same ancestral founder allele as reported in Europe. Conclusion Our findings expand the geographic distribution of HINT1 neuropathy to South America, where we describe a recognized founder variant in a Brazilian adolescent with no apparent European ancestry. We confirm the association of the hallmark sign of neuromyotonia with the disease.Bianca deAguiar Coelho Silva MadeiroKristien PeetersElker Lene Santos de LimaSilvia Amor‐BarrisEls De VriendtAlbena JordanovaMaria Tereza Cartaxo MunizCarolina da Cunha CorreiaWileyarticleCharcot–Marie–Tooth diseasefounder effectHINT1inherited peripheral neuropathyneuromyotoniaGeneticsQH426-470ENMolecular Genetics & Genomic Medicine, Vol 9, Iss 10, Pp n/a-n/a (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	Charcot–Marie–Tooth disease founder effect HINT1 inherited peripheral neuropathy neuromyotonia Genetics QH426-470
spellingShingle	Charcot–Marie–Tooth disease founder effect HINT1 inherited peripheral neuropathy neuromyotonia Genetics QH426-470 Bianca deAguiar Coelho Silva Madeiro Kristien Peeters Elker Lene Santos de Lima Silvia Amor‐Barris Els De Vriendt Albena Jordanova Maria Tereza Cartaxo Muniz Carolina da Cunha Correia HINT1 founder mutation causing axonal neuropathy with neuromyotonia in South America: A case report
description	Abstract Background Recessive loss‐of‐function mutations in HINT1 are associated with predominantly motor axonal peripheral neuropathy with neuromyotonia. Twenty‐four distinct pathogenic variants are reported all over the world, including four confirmed founder variations in Europe and Asia. The majority of patients carry the ancient Slavic founder variant c.110G>C (p.Arg37Pro) that shows a distribution gradient from east to west throughout Europe. Methods We report a case of HINT1 neuropathy in South America, identified by massive parallel sequencing of a neuropathy gene panel. To investigate the origin of the variant, we performed haplotyping analysis. Results A Brazilian adolescent presented with recessive axonal motor neuropathy with asymmetric onset and fasciculations. Neuromyotonia was found on needle electromyography. His parents were not consanguineous and had no European ancestry. The patient carried biallelic pathogenic p.Arg37Pro alterations in the first exon of HINT1. Both alleles were identical by descent and originated from the same ancestral founder allele as reported in Europe. Conclusion Our findings expand the geographic distribution of HINT1 neuropathy to South America, where we describe a recognized founder variant in a Brazilian adolescent with no apparent European ancestry. We confirm the association of the hallmark sign of neuromyotonia with the disease.
format	article
author	Bianca deAguiar Coelho Silva Madeiro Kristien Peeters Elker Lene Santos de Lima Silvia Amor‐Barris Els De Vriendt Albena Jordanova Maria Tereza Cartaxo Muniz Carolina da Cunha Correia
author_facet	Bianca deAguiar Coelho Silva Madeiro Kristien Peeters Elker Lene Santos de Lima Silvia Amor‐Barris Els De Vriendt Albena Jordanova Maria Tereza Cartaxo Muniz Carolina da Cunha Correia
author_sort	Bianca deAguiar Coelho Silva Madeiro
title	HINT1 founder mutation causing axonal neuropathy with neuromyotonia in South America: A case report
title_short	HINT1 founder mutation causing axonal neuropathy with neuromyotonia in South America: A case report
title_full	HINT1 founder mutation causing axonal neuropathy with neuromyotonia in South America: A case report
title_fullStr	HINT1 founder mutation causing axonal neuropathy with neuromyotonia in South America: A case report
title_full_unstemmed	HINT1 founder mutation causing axonal neuropathy with neuromyotonia in South America: A case report
title_sort	hint1 founder mutation causing axonal neuropathy with neuromyotonia in south america: a case report
publisher	Wiley
publishDate	2021
url	https://doaj.org/article/8751b0dbad844852a1befa242ef5bb1e
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HINT1 founder mutation causing axonal neuropathy with neuromyotonia in South America: A case report

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