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...

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Autores principales: Sen, Kuntal, Kaur, Shagun, Stockton, David W., Nyhuis, Mary, Roberson, Jacquelyn
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Thieme Medical Publishers, Inc. 2021
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7850915/
https://www.ncbi.nlm.nih.gov/pubmed/33542858
http://dx.doi.org/10.1055/s-0040-1722728
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author Sen, Kuntal
Kaur, Shagun
Stockton, David W.
Nyhuis, Mary
Roberson, Jacquelyn
author_facet Sen, Kuntal
Kaur, Shagun
Stockton, David W.
Nyhuis, Mary
Roberson, Jacquelyn
author_sort Sen, Kuntal
collection PubMed
description 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.
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spelling pubmed-78509152021-02-03 Biallelic Variants in LAMB1 Causing Hydranencephaly: A Severe Phenotype of a Rare Malformative Encephalopathy Sen, Kuntal Kaur, Shagun Stockton, David W. Nyhuis, Mary Roberson, Jacquelyn AJP Rep 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. Thieme Medical Publishers, Inc. 2021-01 2021-02-01 /pmc/articles/PMC7850915/ /pubmed/33542858 http://dx.doi.org/10.1055/s-0040-1722728 Text en The Author(s). This is an open access article published by Thieme under the terms of the Creative Commons Attribution-NonDerivative-NonCommercial License, permitting copying and reproduction so long as the original work is given appropriate credit. Contents may not be used for commercial purposes, or adapted, remixed, transformed or built upon. ( https://creativecommons.org/licenses/by-nc-nd/4.0/ ) https://creativecommons.org/licenses/by-nc-nd/4.0/ This is an open-access article distributed under the terms of the Creative Commons Attribution-NonCommercial-NoDerivatives License, which permits unrestricted reproduction and distribution, for non-commercial purposes only; and use and reproduction, but not distribution, of adapted material for non-commercial purposes only, provided the original work is properly cited.
spellingShingle Sen, Kuntal
Kaur, Shagun
Stockton, David W.
Nyhuis, Mary
Roberson, Jacquelyn
Biallelic Variants in LAMB1 Causing Hydranencephaly: A Severe Phenotype of a Rare Malformative Encephalopathy
title Biallelic Variants in LAMB1 Causing Hydranencephaly: A Severe Phenotype of a Rare Malformative Encephalopathy
title_full Biallelic Variants in LAMB1 Causing Hydranencephaly: A Severe Phenotype of a Rare Malformative Encephalopathy
title_fullStr Biallelic Variants in LAMB1 Causing Hydranencephaly: A Severe Phenotype of a Rare Malformative Encephalopathy
title_full_unstemmed Biallelic Variants in LAMB1 Causing Hydranencephaly: A Severe Phenotype of a Rare Malformative Encephalopathy
title_short Biallelic Variants in LAMB1 Causing Hydranencephaly: A Severe Phenotype of a Rare Malformative Encephalopathy
title_sort biallelic variants in lamb1 causing hydranencephaly: a severe phenotype of a rare malformative encephalopathy
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7850915/
https://www.ncbi.nlm.nih.gov/pubmed/33542858
http://dx.doi.org/10.1055/s-0040-1722728
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