Anna Hau, Anne Baxter, Kate Chandler, Andrew Fennell, Tzung-Chien Hsieh, Peter M. Krawitz, Jason Pinner, Himanshu Goel
{"title":"魏斯-克鲁兹卡综合征的七种新型变异和表型扩展","authors":"Anna Hau, Anne Baxter, Kate Chandler, Andrew Fennell, Tzung-Chien Hsieh, Peter M. Krawitz, Jason Pinner, Himanshu Goel","doi":"10.1002/ajmg.a.63856","DOIUrl":null,"url":null,"abstract":"Weiss-Kruszka syndrome (WKS) is a rare genetic disorder characterized by metopic ridging, ptosis, arched eyebrows, down slanting palpebral fissures, abnormalities in the corpus callosum, cardiac malformations, and variable neurodevelopmental delay. To date, 32 individuals with a diagnosis of WKS have been reported in the literature. The syndrome is caused by a heterozygous pathogenic variant in the <i>ZNF462</i> gene or a deletion of the 9p31.2 region involving <i>ZNF462</i>. There is significant phenotypic heterogeneity and intrafamilial variability among these patients. Our study reviewed nine patients from seven unrelated families and identified seven novel heterozygous <i>ZNF462</i> variants through exome sequencing. GestaltMatcher analysis of our cohort's facial images, alongside previously published images of <i>ZNF462</i> patients, demonstrated a high degree of facial similarity. Further longitudinal research is needed to delineate this rare condition's long-term health implications and adult-onset features.","PeriodicalId":7507,"journal":{"name":"American Journal of Medical Genetics Part A","volume":null,"pages":null},"PeriodicalIF":1.7000,"publicationDate":"2024-09-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Seven Novel Variants of Weiss-Kruszka Syndrome and Phenotype Expansion\",\"authors\":\"Anna Hau, Anne Baxter, Kate Chandler, Andrew Fennell, Tzung-Chien Hsieh, Peter M. Krawitz, Jason Pinner, Himanshu Goel\",\"doi\":\"10.1002/ajmg.a.63856\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"Weiss-Kruszka syndrome (WKS) is a rare genetic disorder characterized by metopic ridging, ptosis, arched eyebrows, down slanting palpebral fissures, abnormalities in the corpus callosum, cardiac malformations, and variable neurodevelopmental delay. To date, 32 individuals with a diagnosis of WKS have been reported in the literature. The syndrome is caused by a heterozygous pathogenic variant in the <i>ZNF462</i> gene or a deletion of the 9p31.2 region involving <i>ZNF462</i>. There is significant phenotypic heterogeneity and intrafamilial variability among these patients. Our study reviewed nine patients from seven unrelated families and identified seven novel heterozygous <i>ZNF462</i> variants through exome sequencing. GestaltMatcher analysis of our cohort's facial images, alongside previously published images of <i>ZNF462</i> patients, demonstrated a high degree of facial similarity. Further longitudinal research is needed to delineate this rare condition's long-term health implications and adult-onset features.\",\"PeriodicalId\":7507,\"journal\":{\"name\":\"American Journal of Medical Genetics Part A\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":1.7000,\"publicationDate\":\"2024-09-17\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"American Journal of Medical Genetics Part A\",\"FirstCategoryId\":\"99\",\"ListUrlMain\":\"https://doi.org/10.1002/ajmg.a.63856\",\"RegionNum\":4,\"RegionCategory\":\"生物学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q3\",\"JCRName\":\"GENETICS & HEREDITY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"American Journal of Medical Genetics Part A","FirstCategoryId":"99","ListUrlMain":"https://doi.org/10.1002/ajmg.a.63856","RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q3","JCRName":"GENETICS & HEREDITY","Score":null,"Total":0}
Seven Novel Variants of Weiss-Kruszka Syndrome and Phenotype Expansion
Weiss-Kruszka syndrome (WKS) is a rare genetic disorder characterized by metopic ridging, ptosis, arched eyebrows, down slanting palpebral fissures, abnormalities in the corpus callosum, cardiac malformations, and variable neurodevelopmental delay. To date, 32 individuals with a diagnosis of WKS have been reported in the literature. The syndrome is caused by a heterozygous pathogenic variant in the ZNF462 gene or a deletion of the 9p31.2 region involving ZNF462. There is significant phenotypic heterogeneity and intrafamilial variability among these patients. Our study reviewed nine patients from seven unrelated families and identified seven novel heterozygous ZNF462 variants through exome sequencing. GestaltMatcher analysis of our cohort's facial images, alongside previously published images of ZNF462 patients, demonstrated a high degree of facial similarity. Further longitudinal research is needed to delineate this rare condition's long-term health implications and adult-onset features.
期刊介绍:
The American Journal of Medical Genetics - Part A (AJMG) gives you continuous coverage of all biological and medical aspects of genetic disorders and birth defects, as well as in-depth documentation of phenotype analysis within the current context of genotype/phenotype correlations. In addition to Part A , AJMG also publishes two other parts:
Part B: Neuropsychiatric Genetics , covering experimental and clinical investigations of the genetic mechanisms underlying neurologic and psychiatric disorders.
Part C: Seminars in Medical Genetics , guest-edited collections of thematic reviews of topical interest to the readership of AJMG .