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Association of MSX1 c.*6C > T Variant with Nonsyndromic Cleft Lip With or Without Cleft Palate in Turkish Patients

Deniz Aslar Oner1, Hakki Tastan1

  • 1Department of Biology, Faculty of Science, Gazi University , Ankara, Turkey .

Genetic Testing and Molecular Biomarkers
|May 27, 2016
PubMed

Insights

A new MSX1 gene variant, c.*6C>T, is significantly associated with nonsyndromic cleft lip with or without cleft palate (nsCL/P) in Turkish patients. This finding offers insights into the genetic basis of this common birth defect.

Area of Science:

  • Genetics
  • Developmental Biology
  • Medical Research

Background:

  • Nonsyndromic cleft lip with or without cleft palate (nsCL/P) is a frequent congenital anomaly.
  • The MSX1 gene is a key player in craniofacial development and a candidate for nsCL/P.
  • Understanding genetic associations is crucial for nsCL/P etiology.

Purpose of the Study:

  • To investigate the association between MSX1 gene variants and nsCL/P in a Turkish population.
  • To identify specific MSX1 mutations contributing to nsCL/P.
  • To explore the genetic underpinnings of nsCL/P in a distinct ethnic group.

Main Methods:

  • Case-control study involving 80 nsCL/P patients and 125 healthy controls.
  • DNA isolation from peripheral blood leukocytes.
  • PCR amplification and automated sequencing of MSX1 gene exon 2.

Main Results:

  • The MSX1 c.*6C>T variant in the 3' untranslated region was identified.
  • A statistically significant association was found between the MSX1 c.*6C>T variant and nsCL/P in Turkish patients (p=0.01).
  • The CT genotype for this variant was present in 60% of the nsCL/P cases.

Conclusions:

  • This study reports the first association between MSX1 gene variants and nsCL/P.
  • The identified MSX1 c.*6C>T variant is implicated in the etiology of nsCL/P in the Turkish population.
  • Further research into MSX1's role in nsCL/P is warranted.
Abstract

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