Novel NTRK1 mutations cause hereditary sensory and autonomic neuropathy type IV: demonstration of a founder mutation in the Turkish population
详细信息 查看全文
- 作者：Beyhan T¨¹ys¨¹z ; Fatih Bayrakli ; Michael L. DiLuna ; Kaya Bilguvar ; Yasar Bayri ; Cengiz Yalcinkaya ; Aysegul Bursali ; Elif Ozdamar ; Baris Korkmaz and Christopher E. Mason ; et al.
- 关键词：Congenital insensitivity to pain with anhidrosis ; NTRK1 ; CIPA ; Hereditary sensory and autonomic neuropathy type IV ; HSAN IV ; Mutation ; Founder effect
- 刊名：neurogenetics
- 出版年：2008
- 出版时间：May, 2008
- 年：2008
- 卷：9
- 期：2
- 页码：119-125
- 全文大小：250.3 KB
文摘
Hereditary sensory and autonomic neuropathy type IV (HSAN IV), or congenital insensitivity to pain with anhidrosis, is an autosomal recessive disorder characterized by insensitivity to noxious stimuli, anhidrosis from deinnervated sweat glands, and delayed mental and motor development. Mutations in the neurotrophic tyrosine kinase receptor type 1 (NTRK1), a receptor in the neurotrophin signaling pathway phosphorylated in response to nerve growth factor, are associated with this disorder. We identified six families from Northern Central Turkey with HSAN IV. We screened the NTRK1 gene for mutations in these families. Microsatellite and single nucleotide polymorphism (SNP) markers on the Affymetrix 250K chip platform were used to determine the haplotypes for three families harboring the same mutation. Screening for mutations in the NTRK1 gene demonstrated one novel frameshift mutation, two novel nonsense mutations, and three unrelated kindreds with the same splice-site mutation. Genotyping of the three families with the identical splice-site mutation revealed that they share the same haplotype. This report broadens the spectrum of mutations in NTRK1 that cause HSAN IV and demonstrates a founder mutation in the Turkish population.