Mutation analysis of 12 candidate genes for distal hereditary motor neuropathy type II (distal HMN II) linked to 12q24.3.
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).
Irobi
Joy
J
Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology (VIB), Born-Bunge Foundation (BBS), University of Antwerp, Antwerpen, Belgium.
Nelis
Eva
E
Verhoeven
Kristien
K
De Vriendt
Els
E
Dierick
Ines
I
De Jonghe
Peter
P
Van Broeckhoven
Christine
C
Timmerman
Vincent
V
D001483:Base Sequence / Q000235:genetics; D002881:Chromosomes, Human, Pair 12 / Q000235:genetics*; D004252:DNA Mutational Analysis; D008040:Genetic Linkage; D015417:Hereditary Sensory and Motor Neuropathy / Q000235:genetics*; D006801:Humans; D008969:Molecular Sequence Data; D009154:Mutation