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Rare variant of TBL1XR1 in West syndrome: A case report

Yajun Shen1,2, Meng Yuan1,2, Huan Luo1,2

  • 1Department of Pediatrics, West China Second University Hospital, Sichuan University, Chengdu, China.

Molecular Genetics & Genomic Medicine
|May 25, 2022
PubMed

Insights

West syndrome, a severe infant epilepsy, is linked to the rare TBL1XR1 gene. This study identifies a new pathogenic variant in TBL1XR1, strengthening its role in West syndrome development.

Area of Science:

  • Genetics
  • Neurology
  • Pediatrics

Background:

  • West syndrome (WS) is an early-onset epileptic encephalopathy.
  • Over 30 genes are associated with WS, but TBL1XR1 is rarely reported.
  • Limited data exists on TBL1XR1 pathogenic variants in WS.

Observation:

  • Exome sequencing identified a de novo TBL1XR1 variant (p.Glu63Lys) in an infant with WS.
  • The variant was classified as likely pathogenic by ACMG guidelines.
  • Clinical data from TBL1XR1-related WS cases showed heterogeneity.

Findings:

  • A novel, likely pathogenic de novo variant in the TBL1XR1 gene was identified in a patient with West syndrome.
  • This finding expands the known spectrum of TBL1XR1 pathogenic variants.
  • The study confirms TBL1XR1 as a causative gene for West syndrome.

Implications:

  • This research strengthens the genetic evidence linking TBL1XR1 to West syndrome.
  • It highlights the importance of considering TBL1XR1 in the genetic diagnosis of unexplained West syndrome cases.
  • Further research into TBL1XR1's role may reveal therapeutic targets for West syndrome.
Abstract

Keywords:
TBL1XR1, development delay, epilepsyWest syndromevariant

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