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..

这个子项目是许多研究子项目中的一个 由NIH/NCRR资助的中心赠款提供的资源。子项目和 研究者（PI）可能从另一个NIH来源获得了主要资金， 因此可以在其他CRISP条目中表示。所列机构为 研究中心，而研究中心不一定是研究者所在的机构。 Setleis综合征- Setleis综合征（MIM 227260）是一种罕见的疾病，于1963年首次在波多黎各患者中描述，其特征在于双颞瘢痕类似于钳子痕迹，眉毛和向外的侧面缺陷，双排睫毛，面部皮肤的扭曲，球状鼻尖和鼻中隔延伸到鼻翼下方，以及厚突出的嘴唇。Setleis综合征已被证明是一种常染色体隐性遗传疾病，在大多数情况下，并经常发现在圣Sebasti n，波多黎各镇出生的个人。通过与Alberto圣地亚哥科尼尔博士的合作，我们已经确定并收到了来自4个家庭的样本，这些家庭的儿童患有明确定义的Setleis综合征。报纸刊登广告招募更多家庭的努力没有成功。2001年，通过眼科的纳塔利奥·伊斯基耶多医生，我们又招募了一个家庭。有必要进行更积极的招募工作，从至少4个有受影响后代的家庭中获得样本，进行基因组扫描以绘制Setleis基因。Richard A.科罗拉多大学健康科学中心人类医学遗传学项目主任Spritz对这种类型的外胚层发育不良极感兴趣，并愿意协助我们确定染色体位置和受影响的基因。在去年10月的ASHG会议上有一份简短的报告，提出Setleis基因位于染色体1，1 p36。我们已经进行了1号染色体微卫星（STR）标记的基因分型分析与迄今为止收集的样本。以下是我们提交给2001年人类遗传学国际会议的摘要，总结了我们的发现。