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

Clinical Genetics

Volumn 58, Issue 3, 2000, Pages 224-227

  Ninomiya, S ^a   Yokoyama, Y ^a   Teraoka, M ^a   Mori, R ^a   Inoue, C ^a   Yamashita, S ^a   Tamai, H ^b   Funato, M ^b   Seino, Y ^a  

^a OKAYAMA UNIVERSITY MEDICAL SCHOOL   (Japan)

^b YODOGAWA CHRISTIAN HOSPITAL   (Japan)

Author keywords

Campomelic syndrome; Gene mutation; Sex reversal; SOX9

Indexed keywords

AMINO ACID; DIGITALIS; DIURETIC AGENT; GUANINE; HIGH MOBILITY GROUP PROTEIN;

AGE; ALLELE; AMINO ACID COMPOSITION; ARTICLE; ARTIFICIAL VENTILATION; CAMPTOMELIC DYSPLASIA; CARBOXY TERMINAL SEQUENCE; CARTILAGE HYPOPLASIA; CASE REPORT; CHONDRODYSPLASIA; CLINICAL FEATURE; FACE MALFORMATION; FEMALE; FEMUR MALFORMATION; FRAMESHIFT MUTATION; GENE DELETION; GENE MUTATION; HEART VENTRICLE SEPTUM DEFECT; HUMAN; HYPOPLASIA; NEWBORN; NEWBORN DISEASE; PES EQUINOVARUS; PRIORITY JOURNAL; PROTEIN DEFECT; PROTEIN DOMAIN; SCAPULA; SEX DIFFERENTIATION; STOP CODON; SURVIVAL; TIBIA;

ABNORMALITIES, MULTIPLE; ADULT; ALLELES; BASE SEQUENCE; CHILD, PRESCHOOL; CODON, TERMINATOR; DNA MUTATIONAL ANALYSIS; FEMALE; FRAMESHIFT MUTATION; HIGH MOBILITY GROUP PROTEINS; HUMANS; INFANT, NEWBORN; MUTATION; OSTEOCHONDRODYSPLASIAS; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH; RESPIRATION, ARTIFICIAL; SEQUENCE DELETION; SEX REVERSAL, GONADAL; SYNDROME; TRANSCRIPTION FACTORS;

DIGITALIS;

EID: 0033820689     PISSN: 00099163     EISSN: None     Source Type: Journal    
DOI: 10.1034/j.1399-0004.2000.580310.x     Document Type: Article

References (18)

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2. A clinical and genetic study of campomelic dysplasia
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4. Autosomal sex reversal and campomelic dysplasia are caused by mutations in and around the SRY-related gene SOX9
5. Sex reversal by loss of the C-terminal transactivation domain of human SOX9
6. Mutations in SOX9, the gene responsible for campomelic dysplasia and autosomal sex reversal
7. A novel germ line mutation in SOX9 causes familial campomelic dysplasia and sex reversal
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10. Novel missense mutation in the HMG box of SOX9 gene in a Japanese XY male resulted in campomelic dysplasia and severe deffect on masculinization
11. A chromosomal 17q de novo paracentric inversion in a patient with campomelic dysplasia: Case report and etiologic hypothesis
12. Campomelic dysplasia associated with a de novo 2q;17q reciprocal translocation
13. Assignment of an autosomal sex reversal locus (SRA1) and campomelic dysplasia (CMPD1) to 17q24.3-q25.1
14. Acampomelic campomelic syndrome and sex reversal associated with de novo t(12;17) translocation
15. Campomelic dysplasia translocation breakpoints are scattered over 1 Mb proximal to SOX9: Evidence for an extended control region
16. Acampomelic campomelic dysplasia with de novo 5q;17q reciprocal translocation and severe phenotype
17. Campomelic syndromeand deletion of SOX9
18. Deletion of long-range regulatory elements upstream of SOX9 causes campomelic dysplasia