PDF(Pubmed)
Abstract：
UNASSIGNED: Piebaldism is a rare autosomal dominant disease, and roughly 75% patients had KIT gene mutations. Up to date, approximately 90 KIT mutations causing piebaldism were reported.
UNASSIGNED: To identify KIT gene mutations in three pediatric piebaldism patients from different families and explore the genotype-phenotype correlation, peripheral blood DNA were collected from probands and their parents. Whole-exome sequencing was performed to detect potential disease-causing variants in the three probands. Putative variants were validated by Sanger sequencing.
UNASSIGNED: Heterozygous variants of c.2469_2484del (p.Tyr823*), c.1994G > C (p.Pro665Leu), and c.1982_1983insCAT (p.662_663insIle) in KIT gene were detected in three probands. These variants were all novel and classified as pathogenic/likely pathogenic variants according to the interpretation guidelines of American College of Medical Genetics and Genomics and the Association for Molecular Pathology. The probands carrying variants located in tyrosine kinase domain exhibited a more severe phenotype.
UNASSIGNED: The piebaldism in three families was caused by novel heterozygous KIT variants. The severity of phenotypes is related with the types and locations of different mutations. Our results further provided evidence for genetic counseling for the three families.
UNASSIGNED: To identify KIT gene mutations in three pediatric piebaldism patients from different families and explore the genotype-phenotype correlation, peripheral blood DNA were collected from probands and their parents. Whole-exome sequencing was performed to detect potential disease-causing variants in the three probands. Putative variants were validated by Sanger sequencing.
UNASSIGNED: Heterozygous variants of c.2469_2484del (p.Tyr823*), c.1994G > C (p.Pro665Leu), and c.1982_1983insCAT (p.662_663insIle) in KIT gene were detected in three probands. These variants were all novel and classified as pathogenic/likely pathogenic variants according to the interpretation guidelines of American College of Medical Genetics and Genomics and the Association for Molecular Pathology. The probands carrying variants located in tyrosine kinase domain exhibited a more severe phenotype.
UNASSIGNED: The piebaldism in three families was caused by novel heterozygous KIT variants. The severity of phenotypes is related with the types and locations of different mutations. Our results further provided evidence for genetic counseling for the three families.
摘要：
未经证实：Piebaldism是一种罕见的常染色体显性疾病，大约75%的患者有KIT基因突变。到目前为止,报告了约90个KIT突变导致piebaldism。
UNASSIGNED：为了鉴定来自不同家庭的3例小儿皮脂病患者的KIT基因突变，并探讨基因型与表型的相关性，从先证者及其父母收集外周血DNA。进行全外显子组测序以检测三个先证者中潜在的致病变异。通过Sanger测序验证推定的变体。
未经鉴定：c.2469_2484del的杂合变体（p。Tyr823*),c.1994G>C（p。Pro665Leu),在三个先证者中检测到KIT基因中的c.1982_1983insCAT（p.662_663insIle）。根据美国医学遗传学和基因组学学院和分子病理学协会的解释指南，这些变异都是新颖的，并被分类为致病性/可能的致病性变异。携带位于酪氨酸激酶结构域中的变体的先证者表现出更严重的表型。
未经鉴定：三个家族的piebalism是由新的杂合KIT变体引起的。表型的严重程度与不同突变的类型和位置有关。我们的结果进一步为这三个家庭的遗传咨询提供了证据。
UNASSIGNED：为了鉴定来自不同家庭的3例小儿皮脂病患者的KIT基因突变，并探讨基因型与表型的相关性，从先证者及其父母收集外周血DNA。进行全外显子组测序以检测三个先证者中潜在的致病变异。通过Sanger测序验证推定的变体。
未经鉴定：c.2469_2484del的杂合变体（p。Tyr823*),c.1994G>C（p。Pro665Leu),在三个先证者中检测到KIT基因中的c.1982_1983insCAT（p.662_663insIle）。根据美国医学遗传学和基因组学学院和分子病理学协会的解释指南，这些变异都是新颖的，并被分类为致病性/可能的致病性变异。携带位于酪氨酸激酶结构域中的变体的先证者表现出更严重的表型。
未经鉴定：三个家族的piebalism是由新的杂合KIT变体引起的。表型的严重程度与不同突变的类型和位置有关。我们的结果进一步为这三个家庭的遗传咨询提供了证据。
