BACKGROUND: The clinical characteristics of sporadic brachial plexus neuropathy (S-BPN) and hereditary brachial plexus neuropathy (H-BPN) are similar. During attacks, inflammation of the brachial plexus nerves has been identified in both conditions. SEPT9 mutations (Arg88Trp, Ser93Phe, 5'UTR c.-131G>C) occur in some families with H-BPN. These mutations were not found in North American kindreds with H-BPN with a conserved 500-kilobase sequence of DNA at the 17q25 chromosomal region (where SEPT9 localizes) where a founder mutation has been suggested. OBJECTIVE: To study the 17q25 sequence and SEPT9 in S-BPN (56 individuals) and H-BPN (13 kindreds). METHODS: Allele analysis at 17q25, SEPT9 DNA sequencing, and messenger RNA analysis from lymphoblast cultures were performed. RESULTS: A conserved 17q25 sequence was found in 5 of 13 kindreds with H-BPN and 1 individual with S-BPN. This conserved sequence was not found in the family with a SEPT9 mutation (Arg88Trp) or in 182 control subjects. SEPT9 messenger RNA expression levels did not differ between forms of H-BPN and control subjects. No known mutations of SEPT9 were found in S-BPN. CONCLUSIONS: Rarely, individuals with S-BPN may have the same conserved 17q25 sequence found in many North American kindreds with H-BPN. Individuals with BPN with this conserved sequence do not seem to have SEPT9 mutations or alterations of messenger RNA expression levels in lymphoblast cultures and are predicted to have the most common genetic cause in North America by a founder-effect mutation.
BACKGROUND: The clinical characteristics of sporadic brachial plexus neuropathy (S-BPN) and hereditary brachial plexus neuropathy (H-BPN) are similar. During attacks, inflammation of the brachial plexus nerves has been identified in both conditions. SEPT9 mutations (Arg88Trp, Ser93Phe, 5'UTR c.-131G>C) occur in some families with H-BPN. These mutations were not found in North American kindreds with H-BPN with a conserved 500-kilobase sequence of DNA at the 17q25 chromosomal region (where SEPT9 localizes) where a founder mutation has been suggested. OBJECTIVE: To study the 17q25 sequence and SEPT9 in S-BPN (56 individuals) and H-BPN (13 kindreds). METHODS: Allele analysis at 17q25, SEPT9 DNA sequencing, and messenger RNA analysis from lymphoblast cultures were performed. RESULTS: A conserved 17q25 sequence was found in 5 of 13 kindreds with H-BPN and 1 individual with S-BPN. This conserved sequence was not found in the family with a SEPT9 mutation (Arg88Trp) or in 182 control subjects. SEPT9 messenger RNA expression levels did not differ between forms of H-BPN and control subjects. No known mutations of SEPT9 were found in S-BPN. CONCLUSIONS: Rarely, individuals with S-BPN may have the same conserved 17q25 sequence found in many North American kindreds with H-BPN. Individuals with BPN with this conserved sequence do not seem to have SEPT9 mutations or alterations of messenger RNA expression levels in lymphoblast cultures and are predicted to have the most common genetic cause in North America by a founder-effect mutation.
Authors: W James Kent; Charles W Sugnet; Terrence S Furey; Krishna M Roskin; Tom H Pringle; Alan M Zahler; David Haussler Journal: Genome Res Date: 2002-06 Impact factor: 9.043
Authors: Gregor Kuhlenbäumer; Mark C Hannibal; Eva Nelis; Anja Schirmacher; Nathalie Verpoorten; Jan Meuleman; Giles D J Watts; Els De Vriendt; Peter Young; Florian Stögbauer; Hartmut Halfter; Joy Irobi; Dirk Goossens; Jurgen Del-Favero; Benjamin G Betz; Hyun Hor; Gert Kurlemann; Thomas D Bird; Eila Airaksinen; Tarja Mononen; Adolfo Pou Serradell; José M Prats; Christine Van Broeckhoven; Peter De Jonghe; Vincent Timmerman; E Bernd Ringelstein; Phillip F Chance Journal: Nat Genet Date: 2005-09-25 Impact factor: 38.330
Authors: C J Klein; P J B Dyck; S M Friedenberg; T M Burns; A J Windebank; P J Dyck Journal: J Neurol Neurosurg Psychiatry Date: 2002-07 Impact factor: 10.154
Authors: G A Suarez; C Giannini; E P Bosch; R J Barohn; J Wodak; P Ebeling; R Anderson; P E McKeever; M B Bromberg; P J Dyck Journal: Neurology Date: 1996-02 Impact factor: 9.910
Authors: Christopher J Klein; David W Barbara; Juraj Sprung; Peter J Dyck; Toby N Weingarten Journal: Muscle Nerve Date: 2012-10-05 Impact factor: 3.217