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ITPR1 Mutation Contributes to Hemifacial Microsomia Spectrum.

Zhixu Liu1,2,3, Hao Sun1,3, Jiewen Dai1,3

  • 1Department of Oral and Cranio-Maxillofacial Surgery, Shanghai Ninth People's Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China.

Frontiers in Genetics
|March 22, 2021
PubMed
Summary

Mutations in the ITPR1 gene, a calcium ion channel, are linked to hemifacial microsomia (HM), a congenital craniofacial defect. This study reveals ITPR1

Keywords:
DLX5DLX6ITPR1PLCB4hemifacial microsomiazebrafish

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Area of Science:

  • Genetics
  • Developmental Biology
  • Craniofacial Biology

Background:

  • Hemifacial microsomia (HM) is a congenital craniofacial defect affecting first and second branchial arch derivatives.
  • HM is characterized by malformations of the eye, ear, maxilla-zygoma complex, mandible, and facial nerve.
  • The genetic basis of HM is complex, often involving autosomal dominant inheritance patterns.

Purpose of the Study:

  • To investigate the role of the inositol trisphosphate receptor type 1 (ITPR1) gene in craniofacial development.
  • To identify the genetic cause of HM in a family with affected individuals.
  • To explore the functional consequences of ITPR1 mutations in craniofacial formation.

Main Methods:

  • Whole-exome sequencing was performed on a family with HM to identify causative mutations.
  • Expression patterns of ITPR1 were analyzed in relation to craniofacial development.
  • Zebrafish models (Danio rerio) were used to study the function of the homologous itpr1b gene via knockdown experiments.
  • Quantitative reverse transcription PCR (qRT-PCR) was employed to assess gene expression changes in response to itpr1b knockdown.

Main Results:

  • A missense mutation in a highly conserved domain of ITPR1 was identified in affected family members.
  • ITPR1 expression patterns correlate with the development of craniofacial structures affected in HM.
  • Knockdown of the zebrafish homolog, itpr1b, resulted in significant craniofacial skeleton hypoplasia.
  • itpr1b knockdown altered the expression of key developmental genes, including increased plcb4 and decreased Dlx5/6 mRNA levels.

Conclusions:

  • This study establishes a novel role for ITPR1 in craniofacial development.
  • ITPR1 mutations are implicated as a contributing factor to human hemifacial microsomia.
  • The findings provide new insights into the molecular mechanisms underlying HM pathogenesis.