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Başlık: Genes for hereditary sensory and autonomic neuropathies: A genotype-phenotype correlation
Yazarlar: Rotthier, Annelies
Baets, Jonathan
Vriendt, Els De
Jacobs, An
Auer-Grumbach, Michaela
Lévy, Nicolas
Bonello-Palot, Nathalie
Weis, Joachim
Nascimento, Andrés
Swinkels, Marielle
Kruyt, Moyo C.
Jordanova, Albena
De Jonghe, Peter
Timmerman, Vincent
Uludağ Üniversitesi/Tıp Fakültesi/Pediatrik İmmünoloji Anabilim Dalı.
0000-0001-8571-2581
Kılıç, Sara Şebnem
AAH-1658-2021
34975059200
Anahtar kelimeler: HSAN
NTRK1
RAB7
SPTLC1
WNK1/HSN2
Trka/ngf receptor gene
Marie-tooth-disease
Nerve growth-factor
Congenital insensitivity
Anhidrosis cipa
Spastic paraplegia
Tyrosine
Kinase
Ntrk1 gene
Hsan-I
Mutation
Neurosciences & neurology
Yayın Tarihi: Eki-2009
Yayıncı: Oxford University
Atıf: Rotthier, A. vd. (2009). "Genes for hereditary sensory and autonomic neuropathies: A genotype-phenotype correlation". Brain, 132, Part 10, 2699-271.
Özet: Hereditary 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.
URI: https://doi.org/10.1093/brain/awp198
https://academic.oup.com/brain/article/132/10/2699/331429
http://hdl.handle.net/11452/25985
ISSN: 0006-8950
Koleksiyonlarda Görünür:Scopus
Web of Science

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