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

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.

• Authors: R Stoeva, L Grozdanova, G Scherer, M Krasteva, E Bausch, T Krastev, A Linev, M Stefanova
• Journal: Genetic counseling (Geneva, Switzerland) (Genet Couns) Vol. 22 Issue 1 Pg. 49-53 ( 2011) ISSN: 1015-8146 [Print] Switzerland
• PMID: 21614988 (Publication Type: Case Reports, Journal Article)

Chemical References

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

Topics

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