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Related Concept Videos

Neurulation01:30

Neurulation

Neurulation is the embryological process which forms the precursors of the central nervous system and occurs after gastrulation has established the three primary cell layers of the embryo: ectoderm, mesoderm, and endoderm. In humans, the majority of this system is formed via primary neurulation, in which the central portion of the ectoderm—originally appearing as a flat sheet of cells—folds upwards and inwards, sealing off to form a hollow neural tube. As development proceeds, the anterior...

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Exome Sequencing in Prenatally Diagnosed Isolated Neural Tube Defects: A Subtype-Specific Analysis.

Adi Botvinik1, Vered Offen Glasner1, Adi Reches1

  • 1Prenatal Genetic Diagnosis Unit, Genetics Institute, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel.

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|February 19, 2026
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Summary

Exome sequencing reveals distinct genetic underpinnings for neural tube defects (NTDs) subtypes like acrania-exencephaly-anencephaly sequence (AEAS), spinal dysraphism, and encephalocele. These findings highlight the genetic diversity within NTDs, suggesting they are not a single continuum.

Keywords:
PPP1R12Aacraniaencephaloceleexome sequencingneural tube defectsprenatal diagnosis

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Area of Science:

  • Genetics
  • Developmental Biology
  • Medical Research

Background:

  • Neural tube defects (NTDs) are common congenital malformations with diverse phenotypes.
  • Understanding the genetic basis of distinct NTD subtypes is crucial for diagnosis and potential interventions.

Purpose of the Study:

  • To investigate genetic contributors to isolated NTD subtypes: acrania-exencephaly-anencephaly sequence (AEAS), spinal dysraphism, and encephalocele.
  • To explore molecular diversity underlying these distinct prenatal phenotypes using exome sequencing (ES).

Main Methods:

  • Retrospective review of prenatal cases with isolated NTDs.
  • Exclusion of additional malformations via detailed anatomical ultrasound.
  • Trio-based exome sequencing (ES) and variant interpretation using ACMG/AMP guidelines and Human Phenotype Ontology (HPO) terms.

Main Results:

  • Exome sequencing identified pathogenic/likely pathogenic variants in 26% of 23 fetuses with isolated NTDs.
  • Detection rates varied by subtype: encephalocele (60%), spinal dysraphism (25%), and AEAS (20%).
  • Identified genes implicated in cytoskeletal organization, ciliary function, mechanotransduction, and mTOR signaling, with recurrent PPP1R12A variants noted in AEAS and encephalocele.

Conclusions:

  • Distinct NTD subtypes (AEAS, spinal dysraphism, encephalocele) may arise from partially divergent embryologic and genetic origins.
  • Trio-based ES is valuable for elucidating the etiology of isolated NTDs, revealing subtype-specific molecular patterns.
  • Larger studies are necessary to refine detection rates and understand the genetic architecture of these malformations.