Genes for hereditary sensory and autonomic neuropathies: A genotype-phenotype correlation

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dc.contributor.authorRotthier, Annelies
dc.contributor.authorBaets, Jonathan
dc.contributor.authorVriendt, Els De
dc.contributor.authorJacobs, An
dc.contributor.authorAuer-Grumbach, Michaela
dc.contributor.authorLévy, Nicolas
dc.contributor.authorBonello-Palot, Nathalie
dc.contributor.authorWeis, Joachim
dc.contributor.authorNascimento, Andrés
dc.contributor.authorSwinkels, Marielle
dc.contributor.authorKruyt, Moyo C.
dc.contributor.authorJordanova, Albena
dc.contributor.authorDe Jonghe, Peter
dc.contributor.authorTimmerman, Vincent
dc.contributor.buuauthorKılıç, Sara Şebnem
dc.contributor.departmentUludağ Üniversitesi/Tıp Fakültesi/Pediatrik İmmünoloji Anabilim Dalı.tr_TR
dc.contributor.orcid0000-0001-8571-2581tr_TR
dc.contributor.researcheridAAH-1658-2021tr_TR
dc.contributor.scopusid34975059200tr_TR
dc.date.accessioned2022-04-22T06:11:54Z
dc.date.available2022-04-22T06:11:54Z
dc.date.issued2009-10
dc.description.abstractHereditary sensory and autonomic neuropathies (HSAN) are clinically and genetically heterogeneous disorders characterized by axonal atrophy and degeneration, exclusively or predominantly affecting the sensory and autonomic neurons. So far, disease-associated mutations have been identified in seven genes: two genes for autosomal dominant (SPTLC1 and RAB7) and five genes for autosomal recessive forms of HSAN (WNK1/HSN2, NTRK1, NGFB, CCT5 and IKBKAP). We performed a systematic mutation screening of the coding sequences of six of these genes on a cohort of 100 familial and isolated patients diagnosed with HSAN. In addition, we screened the functional candidate gene NGFR (p75/NTR) encoding the nerve growth factor receptor. We identified disease-causing mutations in SPTLC1, RAB7, WNK1/HSN2 and NTRK1 in 19 patients, of which three mutations have not previously been reported. The phenotypes associated with mutations in NTRK1 and WNK1/HSN2 typically consisted of congenital insensitivity to pain and anhidrosis, and early-onset ulcero-mutilating sensory neuropathy, respectively. RAB7 mutations were only found in patients with a Charcot-Marie-Tooth type 2B (CMT2B) phenotype, an axonal sensory-motor neuropathy with pronounced ulcero-mutilations. In SPTLC1, we detected a novel mutation (S331F) corresponding to a previously unknown severe and early-onset HSAN phenotype. No mutations were found in NGFB, CCT5 and NGFR. Overall disease-associated mutations were found in 19% of the studied patient group, suggesting that additional genes are associated with HSAN. Our genotype-phenotype correlation study broadens the spectrum of HSAN and provides additional insights for molecular and clinical diagnosis.en_US
dc.description.sponsorshipGenetic Service Facility (VIB)en_US
dc.identifier.citationRotthier, A. vd. (2009). "Genes for hereditary sensory and autonomic neuropathies: A genotype-phenotype correlation". Brain, 132, Part 10, 2699-271.en_US
dc.identifier.endpage2711tr_TR
dc.identifier.issn0006-8950
dc.identifier.issuePart 10tr_TR
dc.identifier.pubmed19651702tr_TR
dc.identifier.scopus2-s2.0-70349941104tr_TR
dc.identifier.startpage2699tr_TR
dc.identifier.urihttps://doi.org/10.1093/brain/awp198
dc.identifier.urihttps://academic.oup.com/brain/article/132/10/2699/331429
dc.identifier.urihttp://hdl.handle.net/11452/25985
dc.identifier.volume132tr_TR
dc.identifier.wos000270685600018tr_TR
dc.indexed.pubmedPubMeden_US
dc.indexed.scopusScopusen_US
dc.indexed.wosSCIEen_US
dc.language.isoenen_US
dc.publisherOxford Universityen_US
dc.relation.collaborationYurt dışıtr_TR
dc.relation.journalBraintr_TR
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergitr_TR
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.subjectHSANen_US
dc.subjectNTRK1en_US
dc.subjectRAB7en_US
dc.subjectSPTLC1en_US
dc.subjectWNK1/HSN2en_US
dc.subjectTrka/ngf receptor geneen_US
dc.subjectMarie-tooth-diseaseen_US
dc.subjectNerve growth-factoren_US
dc.subjectCongenital insensitivityen_US
dc.subjectAnhidrosis cipaen_US
dc.subjectSpastic paraplegiaen_US
dc.subjectTyrosineen_US
dc.subjectKinaseen_US
dc.subjectNtrk1 geneen_US
dc.subjectHsan-Ien_US
dc.subjectMutationen_US
dc.subjectNeurosciences & neurologyen_US
dc.subject.emtreeAcyltransferaseen_US
dc.subject.emtreeChaperoninen_US
dc.subject.emtreeNerve growth factor beta subuniten_US
dc.subject.emtreeNeurotrophin receptor p75en_US
dc.subject.emtreeProtein cct5en_US
dc.subject.emtreeProtein kinase WNK1en_US
dc.subject.emtreeProtein sptlc1en_US
dc.subject.emtreeRab7 proteinen_US
dc.subject.emtreeUnclassified drugen_US
dc.subject.emtreeAnalgesia (sensory dysfunction)en_US
dc.subject.emtreeAnhidrosisen_US
dc.subject.emtreeArticleen_US
dc.subject.emtreeControlled studyen_US
dc.subject.emtreeFemaleen_US
dc.subject.emtreeGene mutationen_US
dc.subject.emtreeGene sequenceen_US
dc.subject.emtreeGenetic screeningen_US
dc.subject.emtreeGenotypeen_US
dc.subject.emtreeHereditary motor sensory neuropathyen_US
dc.subject.emtreeHumanen_US
dc.subject.emtreeMajor clinical studyen_US
dc.subject.emtreeMaleen_US
dc.subject.emtreeNucleotide sequenceen_US
dc.subject.emtreePhenotypeen_US
dc.subject.emtreePriority journalen_US
dc.subject.scopusHereditary Sensory and Autonomic Neuropathies; Congenital Analgesia; 1-Deoxysphingolipiden_US
dc.subject.wosClinical neurologyen_US
dc.subject.wosNeurosciencesen_US
dc.titleGenes for hereditary sensory and autonomic neuropathies: A genotype-phenotype correlationen_US
dc.typeArticle
dc.wos.quartileQ1en_US

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