A novel mutation (296 del G) of the SOX9 gene in a patient with campomelicsyndrome and sex reversal

Citation
S. Ninomiya et al., A novel mutation (296 del G) of the SOX9 gene in a patient with campomelicsyndrome and sex reversal, CLIN GENET, 58(3), 2000, pp. 224-227
Citations number
18
Language
INGLESE
art.tipo
Article
Categorie Soggetti
Research/Laboratory Medicine & Medical Tecnology","Molecular Biology & Genetics
Journal title
CLINICAL GENETICS
ISSN journal
0009-9163 → ACNP
Volume
58
Issue
3
Year of publication
2000
Pages
224 - 227
Database
ISI
SICI code
0009-9163(200009)58:3<224:ANM(DG>2.0.ZU;2-M
Abstract
The human SOX9 gene is responsible for the campomelic syndrome (CMPS) and s ex reversal. This gene encodes a transcription factor containing a DNA bind ing domain homologous to the SRY high mobility group (HMG) domain. A novel mutation of SOX9, i.e, a single G deletion in one allele at nt 296 from A o f the first ATG in the open reading frame, was identified in a patient with CMPS with sex reversal. The deletion rewired in a frameshift mutation upst ream of the HMG box and a stop codon 30 bp downstream of the HMG box. The p redicted truncated SOX9 protein contained 108 amino acids instead of the 50 9 amino acids of the normal SOX9 protein, removing nearly 80% of the SOX9 p rotein, including the HMG and the C-terminal transactivation domain. Most p atients with CMPS reported previously died within the neonatal period. Our findings that the patient has survived, although has been in daily need of mechanical ventilation support for 5 years and 3 months despite a severely impaired SOX9 protein, do not support a linear relationship between the typ e of mutation and severity of the clinical outcome.