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..

该副本是使用众多研究子项目之一 由NIH/NCRR资助的中心赠款提供的资源。子弹和 调查员（PI）可能已经从其他NIH来源获得了主要资金， 因此可以在其他清晰的条目中代表。列出的机构是 对于中心，这是调查员的机构。 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 reembling forceps marks, lateral deficiency of the eyebrows and outward, double-row eyelashes, wrapling of facial skin, a bulbous nasal tip and nasal septum which extends below the alae nasi and thick嘴唇突出。在大多数情况下，Setleis综合征已被证明是一种常染色体隐性疾病，并且经常在波多黎各圣塞巴斯蒂镇出生。我们通过与Alberto Santiago Cornier博士的合作，从4个患有患有明确定义的Setleis综合征的儿童的家庭中发现并收到了样本。报纸广告招募其他家庭的努力没有成功。通过眼科部门的Natalio Izquierdo博士，我们能够在2001年招募一个家族。从至少4个患有受影响后代的其他家庭中获取样品以进行基因组扫描以绘制Setleis基因。科罗拉多大学健康科学中心人类医学遗传学计划主任理查德·A·斯普里茨（Richard A.去年10月的ASHG会议上有一份简短的报道，提出Setleis Gene位于1，1p36染色体上。我们已经对迄今为止收集的样品进行了对染色体1微卫星（STR）标记的基因分型分析。下面我们包括我们为2001年人类遗传学国际会议提交的摘要的文本，该会议总结了我们的发现。