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..

该子项目是利用该技术的众多研究子项目之一 资源由 NIH/NCRR 资助的中心拨款提供。子项目和 研究者 (PI) 可能已从 NIH 的另一个来源获得主要资金， 因此可以在其他 CRISP 条目中表示。列出的机构是 对于中心来说，它不一定是研究者的机构。 Setleis 综合征 - Setleis 综合征 (MIM 227260) 是一种罕见疾病，于 1963 年首次在波多黎各患者中被描述，其特征是双颞部疤痕类似镊子痕迹、眉毛外侧缺损且向外、双排睫毛、面部皮肤皱纹、球状鼻尖和鼻中隔延伸至鼻翼下方且厚实 突出的嘴唇。在大多数情况下，塞特莱斯综合征已被证明是一种常染色体隐性遗传疾病，并且常见于出生于波多黎各圣塞巴斯蒂安镇的个体。通过与阿尔贝托·圣地亚哥·科尼尔 (Alberto Santiago Cornier) 博士的合作，我们已经识别并收到了来自 4 个患有明确的塞特莱斯综合征儿童的家庭的样本。招募更多家庭的报纸广告努力没有成功。通过眼科的 Natalio Izquierdo 博士，我们在 2001 年招募了另外一个家庭。需要采取更积极的招募工作，从至少 4 个有受影响后代的家庭中获取样本，进行基因组扫描以绘制 Setleis 基因图谱。科罗拉多大学健康科学中心人类医学遗传学项目主任Richard A. Spritz博士对这种类型的外胚层发育不良非常感兴趣，并愿意协助我们确定染色体位置和受影响的基因。去年10月的ASHG会议上有一个简短的报告提出Setleis基因位于1号染色体1p36。我们对目前收集的样本进行了 1 号染色体微卫星 (STR) 标记的基因分型分析。下面是我们为 2001 年国际人类遗传学会议提交的摘要文本，其中总结了我们的发现。