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Mutation analysis of 12 candidate genes for distal hereditary motor neuropathy type II (distal HMN II) linked to 12q24.3

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Abstract 

Distal hereditary motor neuropathies (distal HMNs) are characterized by degeneration of anterior horn cells of the spinal cord resulting in muscle weakness and atrophy. Distal HMN type II is genetically linked to chromosome 12q24.3 and located within a 13 cM region flanked by D12S86 and D12S340. We previously excluded 5 positional and functional candidate genes for distal HMN II. Here, we report the exclusion of 12 additional candidate genes localized within the distal HMN II region; the genes include musashi (Drosophila) homolog 1 (MSI1), protein inhibitor of neuronal nitric oxide synthase (PIN), peripherin (PRPH), tubulin alpha ubiquitous (K-ALPHA-1), tubulin alpha 3 (TUBA3), tubulin alpha 6 (TUBA6), splicing factor arginine/serine-rich 9 (SFRS9), U5 snRNP 100 kd (U5-100K), putative chemokine receptor, GTP-binding protein (HM74), MondoA, cut (Drosophila)-like homeobox 2 (CUX2) and ADP-ribosylation factor 3 (ARF3).
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Keywords: DNA sequencing; and mutation analysis; candidate genes; chromosome 12q24.3; distal HMN type II

Document Type: Research Article

Affiliations: Flanders Interuniversity Institute for Biotechnology (VIB),Born-Bunge Foundation (BBS), University of Antwerp (UIA)

Publication date: June 1, 2002

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