Frontiers in Genetics (Jan 2023)

Case Report: Early diagnosis of lethal multiple pterygium syndrome with micrognathia: Two novel mutations in the CHRND gene

  • Caiyuan Chen,
  • Jin Han,
  • Jiaxin Xue,
  • Ru Li,
  • Guilan Chen,
  • Xin Yang,
  • Jiajie Tang,
  • Jiajie Tang,
  • Fucheng Li,
  • Dongzhi Li

DOI
https://doi.org/10.3389/fgene.2023.1005624
Journal volume & issue
Vol. 14

Abstract

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Lethal multiple pterygium syndrome (LMPS) is a rare disease with genetic and phenotypic heterogeneity and is inherited in an autosomal recessive (AR) pattern. Here, we have presented clinically significant results describing two novel mutations of CHRND gene: NM_000751.2: c.1006C>T p.(Arg336Ter) and NM_000751.2:c.973_975delGTG p.(Val325del), and measurement of the facial angle for determining micrognathia by prenatal diagnosis in the first trimester of pregnancy for a Lethal multiple pterygium syndrome case. In conclusion, this report complements the spectrum of genetic variants and phenotype of Lethal multiple pterygium syndrome and provides reliable recommendation for the counseling of future pregnancies in families with the disease.

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