A family with autosomal dominant mutilating neuropathy not linked to either Charcot-Marie-Tooth disease type 2B (CMT2B) or hereditary sensory neuropathy type I (HSN I) loci.
Sensory loss and ulcero-mutilating features have been observed in hereditary sensory neuropathy type I and in hereditary motor and sensory neuropathy type IIB, also referred as Charcot-Marie-Tooth disease type 2B. To date two loci associated with ulcero-mutilating neuropathy have been described: CMT2B at 3q13-q22 and HSN I at 9q22.1-q22.3. We performed linkage analysis with chromosomal markers representing the hereditary sensory neuropathy type I and Charcot-Marie-Tooth disease type 2B loci on an Italian family with a severe distal sensory loss leading to an ulcero-mutilating peripheral neuropathy. Negative likelihood-of-odds scores excluded any evidence of linkage to both chromosome 3q13 and chromosome 9q22 markers, confirming the genetic heterogeneity of this clinical entity and the presence of a third locus responsible for ulcero-mutilating neuropathies.
Bellone
Emilia
E
Department of Oncology, Biology and Genetics, University of Genoa, Viale Benedetto XV, 6-16132 Genoa, Italy. pmandich@unige.it
Rodolico
Carmelo
C
Toscano
Antonio
A
Di Maria
Emilio
E
Cassandrini
Denise
D
Pizzuti
Antonio
A
Pigullo
Simona
S
Mazzeo
Anna
A
Macaione
Vincenzo
V
Girlanda
Paolo
P
Vita
Giuseppe
G
Ajmar
Franco
F
Mandich
Paola
P
D000293:Adolescent; D000328:Adult; D000368:Aged; D002607:Charcot-Marie-Tooth Disease / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D005260:Female; D005799:Genes, Dominant; D008040:Genetic Linkage; D009477:Hereditary Sensory and Autonomic Neuropathies / Q000235:genetics; D006801:Humans; D007558:Italy; D008297:Male; D010375:Pedigree; D012678:Sensation Disorders / Q000235:genetics*; D012883:Skin Ulcer / Q000235:genetics*