A novel SOX9 nonsense mutation, q401x, in a case of campomelic dysplasia with XY sex reversal

Genet Couns. 2011;22(1):49-53.

Abstract

Campomelic dysplasia (CD, MIM 114290) is a rare, often lethal, dominantly inherited, congenital skeletal dysplasia, associated with male-to-female autosomal sex reversal and due to de novo mutations of the SOX9 gene, a tissue-specific transcription factor gene involved both in skeletogenesis and male sexual differentiation. Here we report on a 4 months-old 46,XY sex reversed infant with typical clinical features for CD due to a novel mutation of the SOX9 gene, Q401X, leading to synthesis of a truncated SOX9 protein that completely lacks the C-terminal transactivation domain.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / diagnosis
  • Abnormalities, Multiple / genetics*
  • Campomelic Dysplasia / diagnosis
  • Campomelic Dysplasia / genetics*
  • Chromosome Aberrations*
  • Codon, Nonsense / genetics*
  • DNA Mutational Analysis
  • Fatal Outcome
  • Female
  • Genetic Carrier Screening
  • Gonadal Dysgenesis, 46,XY / diagnosis
  • Gonadal Dysgenesis, 46,XY / genetics*
  • Humans
  • Infant
  • Infant, Newborn
  • Karyotyping
  • Male
  • Pregnancy
  • Respiratory Distress Syndrome, Newborn / diagnosis
  • Respiratory Distress Syndrome, Newborn / genetics
  • SOX9 Transcription Factor / genetics*

Substances

  • Codon, Nonsense
  • SOX9 Transcription Factor
  • SOX9 protein, human

Supplementary concepts

  • 46, XY female

Associated data

  • OMIM/114290