Kuntal Sen, Shagun Kaur, David W Stockton, Mary Nyhuis, Jacquelyn Roberson
{"title":"LAMB1双等位变异导致无水脑畸形:一种罕见的畸形脑病的严重表型。","authors":"Kuntal Sen, Shagun Kaur, David W Stockton, Mary Nyhuis, Jacquelyn Roberson","doi":"10.1055/s-0040-1722728","DOIUrl":null,"url":null,"abstract":"<p><p><b>Case Report</b> A 32-year-old female with a history of three prior pregnancy losses presented for genetic testing following an ultrasonography diagnosis of fetal hydranencephaly. Baby was born via C-section and was noted to have a head circumference of 48 cm, in addition to ocular and cardiac anomalies and dysmorphic features. Whole genome sequencing revealed a homozygous variant in <i>LAMB1</i> gene. <b>Discussion</b> The pathobiogenesis of hydranencephaly is incompletely understood and is attributed to vascular, infectious, or genetic etiology. Herein we present <i>LAMB1</i> as a monogenic cause of fetal hydranencephaly which was incompatible with life. Previously, <i>LAMB1</i> -associated phenotype consisted of cobblestone lissencephaly and hydrocephalus, developmental delay, and seizures. Our proband expands the phenotypic spectrum of this malformative encephalopathy.</p>","PeriodicalId":7645,"journal":{"name":"AJP Reports","volume":"11 1","pages":"e26-e28"},"PeriodicalIF":0.8000,"publicationDate":"2021-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1055/s-0040-1722728","citationCount":"4","resultStr":"{\"title\":\"Biallelic Variants in <i>LAMB1</i> Causing Hydranencephaly: A Severe Phenotype of a Rare Malformative Encephalopathy.\",\"authors\":\"Kuntal Sen, Shagun Kaur, David W Stockton, Mary Nyhuis, Jacquelyn Roberson\",\"doi\":\"10.1055/s-0040-1722728\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p><b>Case Report</b> A 32-year-old female with a history of three prior pregnancy losses presented for genetic testing following an ultrasonography diagnosis of fetal hydranencephaly. Baby was born via C-section and was noted to have a head circumference of 48 cm, in addition to ocular and cardiac anomalies and dysmorphic features. Whole genome sequencing revealed a homozygous variant in <i>LAMB1</i> gene. <b>Discussion</b> The pathobiogenesis of hydranencephaly is incompletely understood and is attributed to vascular, infectious, or genetic etiology. Herein we present <i>LAMB1</i> as a monogenic cause of fetal hydranencephaly which was incompatible with life. Previously, <i>LAMB1</i> -associated phenotype consisted of cobblestone lissencephaly and hydrocephalus, developmental delay, and seizures. Our proband expands the phenotypic spectrum of this malformative encephalopathy.</p>\",\"PeriodicalId\":7645,\"journal\":{\"name\":\"AJP Reports\",\"volume\":\"11 1\",\"pages\":\"e26-e28\"},\"PeriodicalIF\":0.8000,\"publicationDate\":\"2021-01-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://sci-hub-pdf.com/10.1055/s-0040-1722728\",\"citationCount\":\"4\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"AJP Reports\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.1055/s-0040-1722728\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2021/2/1 0:00:00\",\"PubModel\":\"Epub\",\"JCR\":\"Q4\",\"JCRName\":\"PEDIATRICS\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"AJP Reports","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1055/s-0040-1722728","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2021/2/1 0:00:00","PubModel":"Epub","JCR":"Q4","JCRName":"PEDIATRICS","Score":null,"Total":0}
Biallelic Variants in LAMB1 Causing Hydranencephaly: A Severe Phenotype of a Rare Malformative Encephalopathy.
Case Report A 32-year-old female with a history of three prior pregnancy losses presented for genetic testing following an ultrasonography diagnosis of fetal hydranencephaly. Baby was born via C-section and was noted to have a head circumference of 48 cm, in addition to ocular and cardiac anomalies and dysmorphic features. Whole genome sequencing revealed a homozygous variant in LAMB1 gene. Discussion The pathobiogenesis of hydranencephaly is incompletely understood and is attributed to vascular, infectious, or genetic etiology. Herein we present LAMB1 as a monogenic cause of fetal hydranencephaly which was incompatible with life. Previously, LAMB1 -associated phenotype consisted of cobblestone lissencephaly and hydrocephalus, developmental delay, and seizures. Our proband expands the phenotypic spectrum of this malformative encephalopathy.