title: Twins with hereditary sensory and autonomic neuropathy type IV with preserved periodontal sensation.
abstract: Turkish twin brothers affected with hereditary sensory and autonomic neuropathy type IV (HSAN IV) are reported. Their clinical findings were generally typical for HSAN IV. Interestingly they both had preserved periodontal sensation. Mutation analysis of the NTRK1 gene showed a homozygous c.2001C>T substitution in exon 15 in both twins. This base substitution is predicted to change a polar, positively charged amino acid arginine to the highly active amino acid cystein at position 654 (p.Arg654Cys). The parents were heterozygous for the mutation. This mutation has been reported previously in one Japanese and one Arab patients. The preserved periodontal sensation has not previously been reported in patients affected with HSAN IV. This preserved sensation in our patients might have been through Ruffini endings, the periodontal mechanoreceptors which have been reported to be present in TrkA knockout mice. Here we report the first twins affected with HSAN IV and the observation that periodontal sensation is not affected by mutation in NTRK1.
authors.affiliation: Department of Pedodontics, Faculty of Dentistry, Istanbul University, 34093 Istanbul, Turkey.
authors.forename: Yeliz
authors.initials: Y
authors.lastname: Guven
authors.affiliation: Medical Genetics Department, Istanbul Medical Faculty, Istanbul University, 34093 Istanbul, Turkey.
authors.forename: Umut
authors.initials: U
authors.lastname: Altunoglu
authors.affiliation: Department of Pedodontics, Faculty of Dentistry, Istanbul University, 34093 Istanbul, Turkey.
authors.forename: Oya
authors.initials: O
authors.lastname: Aktoren
authors.affiliation: Medical Genetics Department, Istanbul Medical Faculty, Istanbul University, 34093 Istanbul, Turkey.
authors.forename: Zehra Oya
authors.initials: ZO
authors.lastname: Uyguner
authors.affiliation: Medical Genetics Department, Istanbul Medical Faculty, Istanbul University, 34093 Istanbul, Turkey.
authors.forename: Hulya
authors.initials: H
authors.lastname: Kayserili
authors.affiliation: Center of Excellence in Medical Genetics Research, Chiang Mai University, Thailand; Division of Pediatric Dentistry, Department of Orthodontics and Pediatric Dentistry, Thailand; Craniofacial Genetics Laboratory, Faculty of Dentistry, Chiang Mai University, Thailand.
authors.forename: Massupa
authors.initials: M
authors.lastname: Kaewkahya
authors.affiliation: Center of Excellence in Medical Genetics Research, Chiang Mai University, Thailand; Division of Pediatric Dentistry, Department of Orthodontics and Pediatric Dentistry, Thailand; Craniofacial Genetics Laboratory, Faculty of Dentistry, Chiang Mai University, Thailand; DENTALAND CLINIC, Chiang Mai 50200, Thailand. Electronic address: dentaland17@gmail.com.
authors.forename: Piranit Nik
authors.initials: PN
authors.lastname: Kantaputra
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000235:genetics; D000293:Adolescent; D003241:Consanguinity; D004252:DNA Mutational Analysis; D004200:Diseases in Twins / Q000175:diagnosis* / Q000235:genetics; D009477:Hereditary Sensory and Autonomic Neuropathies / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D008297:Male; D010375:Pedigree; D020917:Receptor, trkA / Q000235:genetics; D012677:Sensation; D014070:Tooth / Q000503:physiopathology*; D014427:Twins
chemical_list: D020917:Receptor, trkA
keywords: Congenital insensitivity to pain; Mutation; NTRK1; TRKA; Teeth; Tooth pain