Biallelic Variants in LAMB1 Causing Hydranencephaly: A Severe Phenotype of a Rare Malformative Encephalopathy

Kuntal Sen, Shagun Kaur, David W. Stockton, Mary Nyhuis, Jacquelyn Roberson

Research output: Contribution to journalArticlepeer-review

2 Scopus citations

Abstract

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.

Original languageEnglish
Pages (from-to)E26-E28
JournalAJP Reports
Volume11
Issue number1
DOIs
StatePublished - Jan 1 2021

Keywords

  • LAMB1
  • hydranencephaly
  • whole genome sequencing
  • α-dystroglycanopathy

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