This subproject is one of many research subprojects utilizing the resources provided by a Center grant funded by NIH/NCRR. The subproject and investigator (PI) may have received primary funding from another NIH source, and thus could be represented in other CRISP entries. The institution listed is for the Center, which is not necessarily the institution for the investigator.
The aim of this project is to identify novel gene loci and gene identities in large Utah kindreds as well as to describe novel mutations and unusual phenotypic features of inherited neuropathies, especially the most common form, hereditary motor and sensory neuropathy or Charcot-Marie-Tooth neuropathy. Charcot-Marie-Tooth neuropathy (CMT) is a genetically heterogeneous group of disorders with autosomal dominant, recessive and X-linked forms of inheritance. Defects in eight different genes have been identified for the autosomal dominant form and multiple chromosomal loci have been described which have notyet been associated with specific genes. Further identification of genes responsible for these different forms of CMT will likely shed light on the significance of this genetic heterogeneity. Specific steps in this project include the identification and clinical description of families, linkage analysis to map their genetic defects, and characterization of their associated molecular defects.

Agency
National Institute of Health (NIH)
Institute
National Center for Research Resources (NCRR)
Type
General Clinical Research Centers Program (M01)
Project #
2M01RR000064-42
Application #
7376439
Study Section
National Center for Research Resources Initial Review Group (RIRG)
Project Start
2006-04-01
Project End
2007-02-28
Budget Start
2006-04-01
Budget End
2007-02-28
Support Year
42
Fiscal Year
2006
Total Cost
$7,402
Indirect Cost
Name
University of Utah
Department
Pediatrics
Type
Schools of Medicine
DUNS #
009095365
City
Salt Lake City
State
UT
Country
United States
Zip Code
84112
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Bowles, Neil E; Jou, Chuanchau J; Arrington, Cammon B et al. (2015) Exome analysis of a family with Wolff-Parkinson-White syndrome identifies a novel disease locus. Am J Med Genet A 167A:2975-84
Priester, Tiffany; Ault, Travis G; Davidson, Lance et al. (2015) Coronary calcium scores 6 years after bariatric surgery. Obes Surg 25:90-6
Adams, T D; Hammoud, A O; Davidson, L E et al. (2015) Maternal and neonatal outcomes for pregnancies before and after gastric bypass surgery. Int J Obes (Lond) 39:686-94

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