Demyelinating peripheral neuropathy caused by the p.R160H mutation in the LITAF gene

We report a 62-year-old woman who presented with complaints of numbness and tingling in her feet without a family history suggestive of neuropathy. Neurological examination and electromyogram testing confirmed the presence of a demyelinating neuropathy with a mild phenotype. Extensive testing reveal...

Full description

Saved in:
Bibliographic Details
Published in:Journal of community hospital internal medicine perspectives 2023-06, Vol.13 (4), p.45-48
Main Authors: Peddareddygari, Leema Reddy, Grewal, Raji P.
Format: Article
Language:English
Subjects:
Case Report
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
cited_by
cites
container_end_page 48
container_issue 4
container_start_page 45
container_title Journal of community hospital internal medicine perspectives
container_volume 13
creator Peddareddygari, Leema Reddy
Grewal, Raji P.
description We report a 62-year-old woman who presented with complaints of numbness and tingling in her feet without a family history suggestive of neuropathy. Neurological examination and electromyogram testing confirmed the presence of a demyelinating neuropathy with a mild phenotype. Extensive testing revealed no etiology and she was diagnosed and treated unsuccessfully for chronic inflammatory demyelinating polyneuropathy. Ultimately, with the availability of next-generation sequencing, genetic testing revealed a heterozygous variant, chr16:11643500C > T, c.479 G > A, p.R160H, in the lipopolysaccharide-induced tumor necrosis factor (LITAF ) gene. Further analysis of this variant employing protein modeling suggests that this is a disease producing mutation causing Charcot Marie Tooth disease type 1C (CMT1C). Our study demonstrates the power of next-generation sequencing to diagnose patients with idiopathic neuropathy. This is important as it avoids unnecessary and expensive treatments for the patient and furthermore, allows genetic counseling for family members.
doi_str_mv 10.55729/2000-9666.1203
format article
fullrecord <record><control><sourceid>pubmedcentral_cross</sourceid><recordid>TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_10589015</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><sourcerecordid>pubmedcentral_primary_oai_pubmedcentral_nih_gov_10589015</sourcerecordid><originalsourceid>FETCH-LOGICAL-c222t-a15413f93b6f20e588e756831e99c58f5a38733e4503d71cdb9ec20a7ff6147a3</originalsourceid><addsrcrecordid>eNpVkEtrwzAQhEVpoSHNuVf9ASd6WJJ1KiFtmkCgUNKzkO1VrBLLxo-C_32dB6E97e4sMwwfQs-UzIVQTC8YISTSUso5ZYTfoclNuP-zP6JZ236PF5FMxYRP0P4VygGOPtjOhwOuofF1AY094gB9U9W2Kwac2b6FHKcD7grA9fyTSrLBZd-NpipgH876brtfrvEBAjyhB2ePLcyuc4q-1m_71SbafbxvV8tdlDHGushSEVPuNE-lYwREkoASMuEUtM5E4oTlieIcYkF4rmiWpxoyRqxyTtJYWT5FL5fcuk9LyDMI3djc1I0vbTOYynrz_xN8YQ7Vj6FEJJpQMSYsLglZU7VtA-5mpsScyZoTPHOCZ05k-S_tqmtH</addsrcrecordid><sourcetype>Open Access Repository</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype></control><display><type>article</type><title>Demyelinating peripheral neuropathy caused by the p.R160H mutation in the LITAF gene</title><source>PubMed Central (Open Access)</source><creator>Peddareddygari, Leema Reddy ; Grewal, Raji P.</creator><creatorcontrib>Peddareddygari, Leema Reddy ; Grewal, Raji P.</creatorcontrib><description>We report a 62-year-old woman who presented with complaints of numbness and tingling in her feet without a family history suggestive of neuropathy. Neurological examination and electromyogram testing confirmed the presence of a demyelinating neuropathy with a mild phenotype. Extensive testing revealed no etiology and she was diagnosed and treated unsuccessfully for chronic inflammatory demyelinating polyneuropathy. Ultimately, with the availability of next-generation sequencing, genetic testing revealed a heterozygous variant, chr16:11643500C &gt; T, c.479 G &gt; A, p.R160H, in the lipopolysaccharide-induced tumor necrosis factor (LITAF ) gene. Further analysis of this variant employing protein modeling suggests that this is a disease producing mutation causing Charcot Marie Tooth disease type 1C (CMT1C). Our study demonstrates the power of next-generation sequencing to diagnose patients with idiopathic neuropathy. This is important as it avoids unnecessary and expensive treatments for the patient and furthermore, allows genetic counseling for family members.</description><identifier>ISSN: 2000-9666</identifier><identifier>EISSN: 2000-9666</identifier><identifier>DOI: 10.55729/2000-9666.1203</identifier><language>eng</language><publisher>Greater Baltimore Medical Center</publisher><subject>Case Report</subject><ispartof>Journal of community hospital internal medicine perspectives, 2023-06, Vol.13 (4), p.45-48</ispartof><rights>2023 Greater Baltimore Medical Center 2023</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC10589015/pdf/$$EPDF$$P50$$Gpubmedcentral$$Hfree_for_read</linktopdf><linktohtml>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC10589015/$$EHTML$$P50$$Gpubmedcentral$$Hfree_for_read</linktohtml><link.rule.ids>230,314,727,780,784,885,27924,27925,53791,53793</link.rule.ids></links><search><creatorcontrib>Peddareddygari, Leema Reddy</creatorcontrib><creatorcontrib>Grewal, Raji P.</creatorcontrib><title>Demyelinating peripheral neuropathy caused by the p.R160H mutation in the LITAF gene</title><title>Journal of community hospital internal medicine perspectives</title><description>We report a 62-year-old woman who presented with complaints of numbness and tingling in her feet without a family history suggestive of neuropathy. Neurological examination and electromyogram testing confirmed the presence of a demyelinating neuropathy with a mild phenotype. Extensive testing revealed no etiology and she was diagnosed and treated unsuccessfully for chronic inflammatory demyelinating polyneuropathy. Ultimately, with the availability of next-generation sequencing, genetic testing revealed a heterozygous variant, chr16:11643500C &gt; T, c.479 G &gt; A, p.R160H, in the lipopolysaccharide-induced tumor necrosis factor (LITAF ) gene. Further analysis of this variant employing protein modeling suggests that this is a disease producing mutation causing Charcot Marie Tooth disease type 1C (CMT1C). Our study demonstrates the power of next-generation sequencing to diagnose patients with idiopathic neuropathy. This is important as it avoids unnecessary and expensive treatments for the patient and furthermore, allows genetic counseling for family members.</description><subject>Case Report</subject><issn>2000-9666</issn><issn>2000-9666</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2023</creationdate><recordtype>article</recordtype><recordid>eNpVkEtrwzAQhEVpoSHNuVf9ASd6WJJ1KiFtmkCgUNKzkO1VrBLLxo-C_32dB6E97e4sMwwfQs-UzIVQTC8YISTSUso5ZYTfoclNuP-zP6JZ236PF5FMxYRP0P4VygGOPtjOhwOuofF1AY094gB9U9W2Kwac2b6FHKcD7grA9fyTSrLBZd-NpipgH876brtfrvEBAjyhB2ePLcyuc4q-1m_71SbafbxvV8tdlDHGushSEVPuNE-lYwREkoASMuEUtM5E4oTlieIcYkF4rmiWpxoyRqxyTtJYWT5FL5fcuk9LyDMI3djc1I0vbTOYynrz_xN8YQ7Vj6FEJJpQMSYsLglZU7VtA-5mpsScyZoTPHOCZ05k-S_tqmtH</recordid><startdate>20230629</startdate><enddate>20230629</enddate><creator>Peddareddygari, Leema Reddy</creator><creator>Grewal, Raji P.</creator><general>Greater Baltimore Medical Center</general><scope>AAYXX</scope><scope>CITATION</scope><scope>5PM</scope></search><sort><creationdate>20230629</creationdate><title>Demyelinating peripheral neuropathy caused by the p.R160H mutation in the LITAF gene</title><author>Peddareddygari, Leema Reddy ; Grewal, Raji P.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c222t-a15413f93b6f20e588e756831e99c58f5a38733e4503d71cdb9ec20a7ff6147a3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2023</creationdate><topic>Case Report</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Peddareddygari, Leema Reddy</creatorcontrib><creatorcontrib>Grewal, Raji P.</creatorcontrib><collection>CrossRef</collection><collection>PubMed Central (Full Participant titles)</collection><jtitle>Journal of community hospital internal medicine perspectives</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Peddareddygari, Leema Reddy</au><au>Grewal, Raji P.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Demyelinating peripheral neuropathy caused by the p.R160H mutation in the LITAF gene</atitle><jtitle>Journal of community hospital internal medicine perspectives</jtitle><date>2023-06-29</date><risdate>2023</risdate><volume>13</volume><issue>4</issue><spage>45</spage><epage>48</epage><pages>45-48</pages><issn>2000-9666</issn><eissn>2000-9666</eissn><abstract>We report a 62-year-old woman who presented with complaints of numbness and tingling in her feet without a family history suggestive of neuropathy. Neurological examination and electromyogram testing confirmed the presence of a demyelinating neuropathy with a mild phenotype. Extensive testing revealed no etiology and she was diagnosed and treated unsuccessfully for chronic inflammatory demyelinating polyneuropathy. Ultimately, with the availability of next-generation sequencing, genetic testing revealed a heterozygous variant, chr16:11643500C &gt; T, c.479 G &gt; A, p.R160H, in the lipopolysaccharide-induced tumor necrosis factor (LITAF ) gene. Further analysis of this variant employing protein modeling suggests that this is a disease producing mutation causing Charcot Marie Tooth disease type 1C (CMT1C). Our study demonstrates the power of next-generation sequencing to diagnose patients with idiopathic neuropathy. This is important as it avoids unnecessary and expensive treatments for the patient and furthermore, allows genetic counseling for family members.</abstract><pub>Greater Baltimore Medical Center</pub><doi>10.55729/2000-9666.1203</doi><tpages>4</tpages><oa>free_for_read</oa></addata></record>
fulltext fulltext
identifier ISSN: 2000-9666
ispartof Journal of community hospital internal medicine perspectives, 2023-06, Vol.13 (4), p.45-48
issn 2000-9666
2000-9666
language eng
recordid cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_10589015
source PubMed Central (Open Access)
subjects Case Report
title Demyelinating peripheral neuropathy caused by the p.R160H mutation in the LITAF gene
url http://sfxeu10.hosted.exlibrisgroup.com/loughborough?ctx_ver=Z39.88-2004&ctx_enc=info:ofi/enc:UTF-8&ctx_tim=2024-12-29T12%3A46%3A22IST&url_ver=Z39.88-2004&url_ctx_fmt=infofi/fmt:kev:mtx:ctx&rfr_id=info:sid/primo.exlibrisgroup.com:primo3-Article-pubmedcentral_cross&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.genre=article&rft.atitle=Demyelinating%20peripheral%20neuropathy%20caused%20by%20the%20p.R160H%20mutation%20in%20the%20LITAF%20gene&rft.jtitle=Journal%20of%20community%20hospital%20internal%20medicine%20perspectives&rft.au=Peddareddygari,%20Leema%20Reddy&rft.date=2023-06-29&rft.volume=13&rft.issue=4&rft.spage=45&rft.epage=48&rft.pages=45-48&rft.issn=2000-9666&rft.eissn=2000-9666&rft_id=info:doi/10.55729/2000-9666.1203&rft_dat=%3Cpubmedcentral_cross%3Epubmedcentral_primary_oai_pubmedcentral_nih_gov_10589015%3C/pubmedcentral_cross%3E%3Cgrp_id%3Ecdi_FETCH-LOGICAL-c222t-a15413f93b6f20e588e756831e99c58f5a38733e4503d71cdb9ec20a7ff6147a3%3C/grp_id%3E%3Coa%3E%3C/oa%3E%3Curl%3E%3C/url%3E&rft_id=info:oai/&rft_id=info:pmid/&rfr_iscdi=true