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Functional Characterization of Endogenously Expressed Human RYR1 Variants
07:59

Functional Characterization of Endogenously Expressed Human RYR1 Variants

Published on: June 9, 2021

A mutation in RYK is a genetic factor for nonsyndromic cleft lip and palate

Akira Watanabe1, Sadanori Akita, Nguyen Thi Duc Tin

  • 1The Second Department of Oral and Maxillofacial Surgery, Tokyo Dental College, Chiba, Japan.

The Cleft Palate-Craniofacial Journal : Official Publication of the American Cleft Palate-Craniofacial Association
|May 10, 2006
PubMed
Abstract

Insights

A rare mutation in the RYK gene was found in a Vietnamese patient with cleft lip and/or palate. This genetic variation may contribute to oral cleft development in specific populations.

Area of Science:

  • Genetics
  • Developmental Biology
  • Craniofacial Research

Background:

  • Cleft lip and/or palate (CLP) and cleft palate only (CPO) are common congenital anomalies.
  • The RYK, EPHB2, and EPHB3 genes are implicated in craniofacial development and are candidate genes for CLP/CPO pathogenesis.
  • Ryk-deficient and Ephb2/Ephb3 double-mutant mice exhibit cleft palate, supporting their role.

Purpose of the Study:

  • To investigate the role of RYK, EPHB2, and EPHB3 genes in the etiology of CLP and CPO.
  • To identify genetic variations associated with oral clefts in Vietnamese and Japanese populations.

Main Methods:

  • Mutation screening of RYK, EPHB2, and EPHB3 in patients with CLP/CPO.
  • Case-control studies and transmission disequilibrium tests using single nucleotide polymorphisms (SNPs) and haplotypes in RYK.
  • Functional analysis of identified RYK mutations using cell-based assays.

Main Results:

  • A novel missense mutation (1355G>A, Y452C) in RYK was identified in one Vietnamese CLP patient, showing reduced protein activity.
  • No mutations in EPHB2 or EPHB3 were detected in any patients.
  • While individual SNPs in RYK showed no association, a rare RYK haplotype suggested a positive association with CLP/CPO in Japanese patients.

Conclusions:

  • The identified RYK missense mutation may contribute to CLP in Vietnamese individuals.
  • A rare RYK haplotype may be associated with CLP/CPO development in Japanese populations.
  • RYK, but not EPHB2 or EPHB3, appears to play a role in oral cleft pathogenesis in the studied cohorts.

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