Biallelic Variants in LAMB1 Causing Hydranencephaly: A Severe Phenotype of a Rare Malformative Encephalopathy
| Autor: | Jacquelyn Roberson, David W. Stockton, Kuntal Sen, Shagun Kaur, Mary Nyhuis |
|---|---|
| Rok vydání: | 2021 |
| Předmět: |
0301 basic medicine
Proband Pathology medicine.medical_specialty Encephalopathy Case Report Hydranencephaly lcsh:Gynecology and obstetrics 03 medical and health sciences 0302 clinical medicine medicine lcsh:RG1-991 Genetic testing whole genome sequencing Pregnancy Fetus Cobblestone Lissencephaly medicine.diagnostic_test business.industry Obstetrics and Gynecology medicine.disease Hydrocephalus hydranencephaly α-dystroglycanopathy 030104 developmental biology lamb1 Pediatrics Perinatology and Child Health business 030217 neurology & neurosurgery |
| Zdroj: | American Journal of Perinatology Reports, Vol 11, Iss 01, Pp e26-e28 (2021) AJP Reports |
| ISSN: | 2157-7005 2157-6998 |
| DOI: | 10.1055/s-0040-1722728 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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