CHROMOSOME 1P36 DELETION SYNDROME: MOLECULAR STUDIES

描述：贝勒医学院的斯图尔特·夏皮拉博士 请求两年的支持，为检查基因型别奠定基础 与终末或间质相关的许多异常的基础 涉及1号染色体1p36短臂尖端的缺失。 1p36缺失的半合子儿童表现出一系列 表型，最常见的是智力低下、低眼压和 发育迟缓。有证据表明，这些删除是异质性的 这一事实，加上表型表现的异质性， 表明单倍体不足或隐性突变的发现 可能是这些表型的原因。还有证据表明这一点 是一种邻近基因综合征。夏皮拉博士和他的同事们发现 一年中有六个病人。根据新生儿的数量 经过检查，夏皮拉博士认为这种疾病的发生率可能是 1/10,000--比之前认为的要高得多。因为患有这种病的孩子 缺失确实有不同的表型，这对患者来说很重要 由一个临床团队进行检查，以确保评估标准 都是统一的。这种临床检查是这项建议的第一个目标。 在研究的其余部分，调查人员建议确定 并绘制了1p36缺失的几个特征的关键区域 综合症。

DESCRIPTION: Dr. Stuart Shapira from the Baylor College of Medicine requests two years of support to lay the groundwork to examine the genotypic basis for a number of abnormalities associated with terminal or interstitial deletions involving the tip of the short arm of chromosome 1, 1p36. Children who are hemizygous for 1p36 deletion exhibit a spectrum of phenotypes, the most common being mental retardation, hypotonia, and developmental delay. There is evidence that the deletions are heterogeneous and this fact, coupled with the heterogeneity of phenotypic manifestations, suggests that haploinsufficiency or the uncovering of recessive mutations might be responsible for the phenotypes. There is also evidence that this is a contiguous gene syndrome. Dr. Shapira and his colleagues identified six patients during a single year. Based on the number of newborns examined, Dr. Shapira feels that the incidence of this disorder might be 1/10,000--much higher than previously thought. Since children with these deletions do have variable phenotypes, it is important for the patients to be examined by a single clinical team to make sure the assessment criteria are uniform. Such clinical examination is the first aim of the proposal. In the remaining part of the study, the investigator proposes to identify and map the critical regions of several features of the 1p36 deletion syndrome.