Human Molecular Genetics Advance Access originally published online on February 19, 2004
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Human Molecular Genetics, 2004, Vol. 13, No. 8 799-805
DOI: 10.1093/hmg/ddh096
Human Molecular Genetics, Vol. 13, No. 8 © Oxford University Press 2004; all rights reserved
A mutation in the nerve growth factor beta gene (NGFB) causes loss of pain perception
1Department of Medical Biosciences, Unit of Clinical and Medical Genetics, Umeå University, SE-90187 Umeå, Sweden, 2Department of Orthopaedics, Gällivare Hospital, SE-982 82 Gällivare, Sweden, 3Department of Surgery and Perioperative Sciences, Unit of Orthopaedics, Umeå University Hospital, SE-90185 Umeå, Sweden, 4Department of Neurology, Huddinge University Hospital, SE-14186 Stockholm, Sweden and 5Department of Clinical Genetics, University Hospital of Umeå, SE-90185 Umeå, Sweden
Received November 7, 2003; Accepted February 6, 2004
Identification of genes associated with pain insensitivity syndromes can increase the understanding of the pathways involved in pain and contribute to the understanding of how sensory pathways relate to other neurological functions. In this report we describe the mapping and identification of the gene responsible for loss of deep pain perception in a large family from northern Sweden. The loss of pain perception in this family is characterized by impairment in the sensing of deep pain and temperature but with normal mental abilities and with most other neurological responses intact. A severe reduction of unmyelinated nerve fibers and a moderate loss of thin myelinated nerve fibers are observed in the patients. Thus the cases in this study fall into the class of patients with loss of pain perception with underlying peripheral neuropathy. Clinically they best fit into HSAN V. Using a model of recessive inheritance we identified an 8.3 Mb region on chromosome 1p11.2–p13.2 shared by the affected individuals in the family. Analysis of functional candidate genes in the disease critical region revealed a mutation in the coding region of the nerve growth-factor beta (NGFB) gene specific for the disease haplotype. This NGF mutation seems to separate the effects of NGF involved in development of central nervous system functions such as mental abilities, from those involved in peripheral pain pathways. This mutation could therefore potentially provide an important tool to study different roles of NGF, and of pain control.
* To whom correspondence should be addressed. Tel: +46 907854406; Fax: +46 907853593; Email: monica.holmberg{at}medbio.umu.se
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