Prenatal Identification of a Missense Mutation of the L1CAM Gene Associated With Hydrocephalus Using Next-Generation Sequencing

Sotirios Sotiriou; Athina A Samara; Eleftherios Anastasakis; Athanasios Zikopoulos; Ioannis Papoulidis; Emmanouil Manolakos; Efterpi Pavlidou; Chara Skentou

doi:10.7759/cureus.55142

Prenatal Identification of a Missense Mutation of the L1CAM Gene Associated With Hydrocephalus Using Next-Generation Sequencing

Cureus. 2024 Feb 28;16(2):e55142. doi: 10.7759/cureus.55142. eCollection 2024 Feb.

Authors

Sotirios Sotiriou¹, Athina A Samara¹, Eleftherios Anastasakis¹, Athanasios Zikopoulos¹, Ioannis Papoulidis², Emmanouil Manolakos², Efterpi Pavlidou³, Chara Skentou⁴

Affiliations

¹ Department of Embryology, University of Thessaly, Larissa, GRC.
² Clinical Laboratory Genetics, Access To Genome P.C., Athens, GRC.
³ Department of Speech and Language Therapy, University of Ioannina, Ioannina, GRC.
⁴ Department of Obstetrics and Gynecology, University of Thessaly, Larissa, GRC.

Abstract

We present the case of a 35-year-old pregnant woman who visited our department for a routine ultrasonography screening scan for fetus anatomy during the 22nd week of gestation. Our report revealed a male fetus with marked hydrocephalus and severe intrauterine growth retardation. After extensive counseling, the couple decided to proceed with an invasive diagnosis via amniocentesis. The cytogenetic analysis showed findings related to clinical history and ultrasound findings related to the presence of a nucleotide change in c.578T>C with an amino acid change in p.Leu198Pro of the L1CAM gene. The result was reported as a hemizygote missense L1CAM gene variant of unknown significance. After extensive parental counseling, the couple decided on pregnancy termination. We report the present case of L1CAM mutation in p.Leu198Pro to add to the limited knowledge regarding the clinical presentation of mutations of the L1CAM gene with emphasis on prenatal diagnosis.

Keywords: corpus callosum (cc) agenesia; hydrocephalus; iugr; l1cam gene; next-generation sequencing (ngs).

Publication types

Case Reports