The primary objective of this proposal is to identify the genetic mutation(s) responsible for Setleis Syndrome (SS). SS is a form of ectodermal dysplasia believed to be inherited as an automosal recessive trait. It is characterized by bilateral temporal marks, an aged leonine appearance, puckered skin about the eyes, absent eyelashes on both lids or multiple rows on the upper lids and none on the lower lids, a mouth and chin that feels rubbery, and eyebrows that slant sharply upward. The gene responsible for SS has not been identified and the molecular basis for SS is not known. DNA analysis of Puerto Rican Setleis patients failed to establish linkage with candidate gene regions 1q32-44, 2q11-13, 3q27, 11q23-q24 and 13q12 and 1p36. We propose to: 1) make a genome-wide scan to identify the Setleis gene locus, 2) do gene mapping in order to refine the genetic candidate region for the SS gene, 3) engage in molecular studies to resolve the physical and genetic map of the gene and evaluate the genes and 4) identify the specific mutation responsible for Setleis Syndrome in these patients. The identification of the SS gene could lead to tool s for the diagnosis and treatment of this condition and other ectodermal dysplasias.

Agency
National Institute of Health (NIH)
Institute
National Institute of General Medical Sciences (NIGMS)
Type
MARC (NRSA) Faculty Fellowships (F34)
Project #
5F34GM069277-02
Application #
6804526
Study Section
Minority Programs Review Committee (MPRC)
Program Officer
Toliver, Adolphus
Project Start
2003-09-15
Project End
2006-09-14
Budget Start
2004-09-15
Budget End
2005-09-14
Support Year
2
Fiscal Year
2004
Total Cost
$42,792
Indirect Cost
Name
University of Puerto Rico Med Sciences
Department
Biochemistry
Type
Schools of Medicine
DUNS #
948108063
City
San Juan
State
PR
Country
United States
Zip Code
00936