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Novel homozygous mutations in TXNDC15 causing Meckel syndrome

Tianqin Deng1, Yuli Xie2

  • 1Reproductive Medical Center, Shenzhen Maternity & Child Healthcare Hospital, Shenzhen, People's Republic of China.

Molecular Genetics & Genomic Medicine
|December 29, 2023
PubMed
Abstract

Insights

Meckel syndrome (MKS) is a severe ciliopathy. A new homozygous mutation in the TXNDC15 gene was identified in a Chinese family, causing MKS14 and aiding genetic counseling.

Area of Science:

  • Genetics
  • Molecular Biology
  • Developmental Biology

Background:

  • Meckel syndrome (MKS) is a severe autosomal recessive ciliopathy.
  • Clinical features include occipital encephalocele, polycystic kidneys, and polydactyly.
  • TXNDC15 gene mutations are associated with MKS.

Observation:

  • A Chinese family presented with a fetus exhibiting MKS characteristics.
  • Whole-exome and Sanger sequencing were performed on fetal tissue and parental blood.
  • Genetic analysis aimed to identify pathogenic variants linked to MKS.

Findings:

  • The fetus was homozygous for a novel TXNDC15 gene mutation (c.560delA).
  • Both parents were heterozygous carriers of the identified TXNDC15 mutation.
  • This mutation leads to MKS14, a specific subtype of Meckel syndrome.

Implications:

  • Identifies a new mutation contributing to the genetic diversity of MKS.
  • Provides crucial information for genetic counseling in affected families.
  • Supports reproductive decision-making for individuals at risk of MKS.
Keywords:
Meckel syndromeTXNDC15 geneciliopathypreimplantation genetic testing

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