A novel missense mutation in TFAP2B associated with Char syndrome and central diabetes insipidus

Am J Med Genet A. 2019 Jul;179(7):1299-1303. doi: 10.1002/ajmg.a.61150. Epub 2019 Apr 22.

Abstract

Char syndrome is characterized by persistent patent ductus arteriosus (PDA) associated with hand-skeletal abnormalities and distinctive facial dysmorphism. Pathogenic variants in the transcription factor gene TFAP2B have been shown to cause Char syndrome; however, there is significant phenotypic variability linked to variant location. Here, we report a pediatric patient with a novel de novo variant in the fifth exon of TFAP2B, c.917C > T (p.Thr306Met), who presented with PDA, patent foramen ovale, postaxial polydactyly of the left fifth toe and clinodactyly of the left fourth toe, sensorineural hearing loss, scoliosis, dental anomalies, and central diabetes insipidus (CDI). CDI, scoliosis, and hearing loss have not previously been reported in a patient with Char syndrome, and while the association may be coincidental, this report expands the genotypes and potentially phenotypes associated with this syndrome.

Keywords: Char syndrome; TFAP2B protein, human; diabetes insipidus; patent ductus arteriosus; transcription factor AP-2.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Adolescent
  • Chromosome Aberrations
  • Chromosomes, Human, Pair 1
  • Chromosomes, Human, Pair 10
  • Diabetes Insipidus / genetics*
  • Ductus Arteriosus, Patent / genetics*
  • Face / abnormalities*
  • Female
  • Fingers / abnormalities*
  • Genotype
  • Humans
  • Mutation, Missense*
  • Phenotype
  • Transcription Factor AP-2 / genetics*

Substances

  • TFAP2B protein, human
  • Transcription Factor AP-2

Supplementary concepts

  • Char syndrome