Carpenter syndrome in a patient from Tanzania

Am J Med Genet A. 2021 Mar;185(3):986-989. doi: 10.1002/ajmg.a.62015. Epub 2020 Dec 24.

Abstract

Carpenter syndrome (acrocephalopolysyndactyly type II) is a rare autosomal recessive disorder. It was clinically diagnosed in a female baby with polysyndactyly and craniosynostosis in a referral clinic in Northern Tanzania. In the RAB23 gene, a previously described homozygous variant c.82C>T p.(Arg28*) was detected that results in a premature stop codon. Both parents were demonstrated to be heterozygous carriers of this variant. Herewith, its pathogenicity is proved. A literature search suggests this is the first molecularly confirmed case of Carpenter syndrome in continental Africa.

Keywords: Carpenter syndrome; RAB23; Tanzania; acrocephalopolysyndactyly type II; craniosynostosis; polysyndactyly.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / epidemiology
  • Abnormalities, Multiple / genetics*
  • Acrocephalosyndactylia / diagnostic imaging
  • Acrocephalosyndactylia / epidemiology
  • Acrocephalosyndactylia / genetics*
  • Codon, Nonsense*
  • Female
  • Foot Deformities, Congenital / diagnostic imaging
  • Foot Deformities, Congenital / genetics
  • Hand Deformities, Congenital / diagnostic imaging
  • Hand Deformities, Congenital / genetics
  • Homozygote
  • Humans
  • Image Processing, Computer-Assisted
  • Infant
  • Male
  • Phenotype
  • Physical Examination
  • Point Mutation*
  • Tanzania / epidemiology
  • Tomography, X-Ray Computed
  • rab GTP-Binding Proteins / deficiency
  • rab GTP-Binding Proteins / genetics*

Substances

  • Codon, Nonsense
  • RAB23 protein, human
  • rab GTP-Binding Proteins

Supplementary concepts

  • Acrocephalopolysyndactyly Type II