IDENTIFICATION OF THE GENE(S) INVOLVED IN TYPE III FOCAL FACIAL DERMAL DYSPLASIA

III 型局灶性面部皮肤发育不良涉及的基因的鉴定

• 批准号: 7609650
• 负责人: CARMEN LYDIA CADILLA
• 金额: $ 3.47万
• 依托单位: UNIVERSITY OF PUERTO RICO MED SCIENCES
• 依托单位国家: 美国
• 财政年份: 2007
• 资助国家: 美国
• 起止时间: 2007-07-01 至 2008-06-30
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/7609650
• 关键词: 1p36; Advertisements; Affect; Child; Chromosomes, Human, Pair 1; Cicatrix; Collaborations; Colorado; Computer Retrieval of Information on Scientific Projects Database; Dermal; Disease; Dysplasia; Ectodermal Dysplasia; Eyebrow structure; Eyelash; Face; Family; Forcep; Funding; Genes; Genetic Programming; Genome Scan; Genotype; Grant; Health Sciences; Human; Human Genetics; Individual; Institution; International; Lateral; Lip structure; Location; Maps; Medical; Microsatellite Repeats; Nasal septum structure; Newspapers; Nose; Ophthalmology; Patients; Puerto Rican; Puerto Rico; Rare Diseases; Recruitment Activity; Reporting; Research; Research Personnel; Resources; Sampling; Setleis syndrome; Skin; Source; Text; Thick; United States National Institutes of Health; Universities; abstracting; interest; symposium

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. 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..

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