A novel ARCN1 splice-site variant in a Chinese girl with central precocious puberty, intrauterine growth restriction, microcephaly, and microretrognathia

BMC Pediatr. 2024 Dec 27;24(1):838. doi: 10.1186/s12887-024-05329-2.

Abstract

The ARCN1 gene encodes the delta subunit of the coatomer protein complex I (COPI), which is essential for mediating protein transport from the Golgi complex to the endoplasmic reticulum. Variants in ARCN1 are associated with clinical features such as microcephaly, microretrognathia, intrauterine growth restriction, short rhizomelic stature, and developmental delays. We present a case of a patient exhibiting intrauterine growth restriction, preterm birth, microcephaly, micrognathia, and central precocious puberty. Whole-exome sequencing identified a novel splice-site variant, NM_001655.5: c.1241 + 1G > A, in the ARCN1 gene. To our knowledge, this is the first documented case of ARCN1-related syndrome associated with central precocious puberty, contributing to the understanding of the disease phenotype.

Keywords: ARCN1 variant; ARCN1-related syndrome; Central precocious puberty.

Publication types

  • Case Reports

MeSH terms

  • Coatomer Protein / genetics
  • East Asian People
  • Exome Sequencing
  • Female
  • Fetal Growth Retardation* / genetics
  • Humans
  • Microcephaly* / complications
  • Microcephaly* / genetics
  • Micrognathism / genetics
  • Phenotype
  • Puberty, Precocious* / genetics
  • RNA Splice Sites / genetics

Substances

  • Coatomer Protein
  • RNA Splice Sites