This subproject is one of many research subprojects utilizing theresources provided by a Center grant funded by NIH/NCRR. The subproject andinvestigator (PI) may have received primary funding from another NIH source,and thus could be represented in other CRISP entries. The institution listed isfor the Center, which is not necessarily the institution for the investigator.Setleis Syndrome- Setleis syndrome (MIM 227260) is a rare disorder that was first described in 1963 in Puerto Rican patients, and is characterized by bitemporal scars resembling forceps marks, lateral deficiency of the eyebrows and outward, double-row eyelashes, wrinkling of facial skin, a bulbous nasal tip and nasal septum which extends below the alae nasi and thick protruding lips. Setleis syndrome has been shown to be an autosomal recessive disorder in most cases, and is frequently found in individuals born in the town of San Sebasti n, Puerto Rico. We have identified and received samples from 4 families with affected children with a clearly defined Setleis syndrome, through the collaboration with Dr. Alberto Santiago Cornier. Newspaper advertisement efforts to recruit additional families have been unsuccessful. Through Dr. Natalio Izquierdo of the Ophthalmology Department we were able to recruit one additional family in 2001. A more aggressive recruitment effort is necessary to obtain samples from at least 4 additional families with affected offspring to engage in a genome scan to map the Setleis gene. Dr. Richard A. Spritz, Director of the Human Medical Genetics Program at the University of Colorado Health Sciences Center, is extremely interested in this type of ectodermal dysplasia, and is willing to assist us in identifying the chromosomal location and affected gene. There was a brief report in the ASHG meeting last October that proposed that the Setleis gene was located at chromosome 1, 1p36. We have performed genotyping analysis of chromosome 1 microsatellite (STR) markers with the samples gathered so far. Below we include the text of an abstract we submitted for the 2001 International Conference in Human Genetics that summarizes our findings..

Agency
National Institute of Health (NIH)
Institute
National Center for Research Resources (NCRR)
Type
Exploratory Grants (P20)
Project #
5P20RR011126-13
Application #
7609650
Study Section
National Center for Research Resources Initial Review Group (RIRG)
Project Start
2007-07-01
Project End
2008-06-30
Budget Start
2007-07-01
Budget End
2008-06-30
Support Year
13
Fiscal Year
2007
Total Cost
$34,667
Indirect Cost
Name
University of Puerto Rico Med Sciences
Department
Type
Schools of Medicine
DUNS #
948108063
City
San Juan
State
PR
Country
United States
Zip Code
00936
Cantres-Rosario, Yisel M; Acevedo-Mariani, Frances M; Pérez-Laspiur, Juliana et al. (2017) Microwave & magnetic proteomics of macrophages from patients with HIV-associated cognitive impairment. PLoS One 12:e0181779
Colon, Krystal; Perez-Laspiur, Juliana; Quiles, Raymond et al. (2016) Macrophage secretome from women with HIV-associated neurocognitive disorders. Proteomics Clin Appl 10:136-43
Vázquez-Santiago, Fabián J; Rivera-Amill, Vanessa (2015) Envelope gene evolution and HIV-1 neuropathogenesis. J Neuroinfect Dis 6:
Vázquez-Santiago, Fabián; García, Yashira; Rivera-Román, Ivelisse et al. (2015) Longitudinal Analysis of Cerebrospinal Fluid and Plasma HIV-1 Envelope Sequences Isolated From a Single Donor with HIV Asymptomatic Neurocognitive Impairment. J Virol Antivir Res 4:
Ríos, Grissel; Estrada, Marcos; Mayor, Angel M et al. (2014) Factors associated with tender point count in Puerto Ricans with fibromyalgia syndrome. P R Health Sci J 33:112-6
Ortiz, Ana Patricia; Romaguera, Josefina; Pérez, Cynthia M et al. (2013) Human papillomavirus infection in women in Puerto Rico: agreement between physician-collected and self-collected anogenital specimens. J Low Genit Tract Dis 17:210-7
Cantres-Rosario, Yisel; Plaud-Valentín, Marines; Gerena, Yamil et al. (2013) Cathepsin B and cystatin B in HIV-seropositive women are associated with infection and HIV-1-associated neurocognitive disorders. AIDS 27:347-56
Agsalda-Garcia, Melissa; Shiramizu, Bruce; Melendez, Loyda et al. (2013) Different levels of HIV DNA copy numbers in cerebrospinal fluid cellular subsets. J Health Care Poor Underserved 24:8-16
Gandhi, Rajesh T; Bosch, Ronald J; Aga, Evgenia et al. (2013) Residual plasma viraemia and infectious HIV-1 recovery from resting memory CD4 cells in patients on antiretroviral therapy: results from ACTG A5173. Antivir Ther 18:607-13
González, Lorena; Magno, Priscilla; Ortiz, Ana P et al. (2013) Esophageal cancer incidence rates by histological type and overall: Puerto Rico versus the United States Surveillance, Epidemiology, and End Results population, 1992-2005. Cancer Epidemiol 37:5-10

Showing the most recent 10 out of 189 publications