Gene: SOX9

Alternate names for this Gene: CMD1|CMPD1|SRA1|SRXX2|SRXY10

Gene Summary: The protein encoded by this gene recognizes the sequence CCTTGAG along with other members of the HMG-box class DNA-binding proteins. It acts during chondrocyte differentiation and, with steroidogenic factor 1, regulates transcription of the anti-Muellerian hormone (AMH) gene. Deficiencies lead to the skeletal malformation syndrome campomelic dysplasia, frequently with sex reversal.

Gene is located in Chromosome: 17

Location in Chromosome : 17q24.3

Description of this Gene: SRY-box transcription factor 9

Type of Gene: protein-coding

Gene: SOX9-AS1

Alternate names for this Gene: -

Gene Summary:

Gene is located in Chromosome: 17

Location in Chromosome : 17q24.3

Description of this Gene: SOX9 antisense RNA 1

Type of Gene: ncRNA

rs104894647 in SOX9;SOX9-AS1 gene and CAMPOMELIC DYSPLASIA PMID 10951468 2000 Acampomelic campomelic dysplasia with SOX9 mutation.

PMID 11754051 2001 Acampomelic campomelic syndrome.

PMID 19033726 2008 Campomelic dysplasia: echographic suspicion in the first trimester of pregnancy and final diagnosis of two cases.

PMID 19921652 2009 Mutation analysis of SOX9 and single copy number variant analysis of the upstream region in eight patients with campomelic dysplasia and acampomelic campomelic dysplasia.

PMID 20513132 2010 Heterozygous SOX9 mutations allowing for residual DNA-binding and transcriptional activation lead to the acampomelic variant of campomelic dysplasia.

PMID 11323423 2001 Compound effects of point mutations causing campomelic dysplasia/autosomal sex reversal upon SOX9 structure, nuclear transport, DNA binding, and transcriptional activation.

PMID 24038782 2013 A novel SOX9 H169Q mutation in a family with overlapping phenotype of mild campomelic dysplasia and small patella syndrome.

PMID 7485151 1995 Mutations in SOX9, the gene responsible for Campomelic dysplasia and autosomal sex reversal.

PMID 12783851 2003 Loss of DNA-dependent dimerization of the transcription factor SOX9 as a cause for campomelic dysplasia.

PMID 9452059 1998 Novel missense mutation in the HMG box of SOX9 gene in a Japanese XY male resulted in campomelic dysplasia and severe defect in masculinization.

PMID 9002675 1997 Mutational analysis of the SOX9 gene in campomelic dysplasia and autosomal sex reversal: lack of genotype/phenotype correlations.

PMID 10446171 1999 Functional and structural studies of wild type SOX9 and mutations causing campomelic dysplasia.

rs1425166755 in SOX9;SOX9-AS1 gene and Dysmorphic features PMID 28965976 2018 The presence of diminished white matter and corpus callosal thinning in a case with a SOX9 mutation.

PMID 7666392 1995 A clinical and genetic study of campomelic dysplasia.

PMID 15754354 2005 Differentiating campomelic dysplasia from Cumming syndrome.

PMID 9452059 1998 Novel missense mutation in the HMG box of SOX9 gene in a Japanese XY male resulted in campomelic dysplasia and severe defect in masculinization.

PMID 19921652 2009 Mutation analysis of SOX9 and single copy number variant analysis of the upstream region in eight patients with campomelic dysplasia and acampomelic campomelic dysplasia.

PMID 25983619 2015 Clinical and molecular characterization of a Brazilian cohort of campomelic dysplasia patients, and identification of seven new SOX9 mutations.

PMID 12161603 2002 The phenotype of survivors of campomelic dysplasia.

PMID 9066880 1997 Acampomelic campomelic dysplasia: further radiographic variations.

PMID 7485151 1995 Mutations in SOX9, the gene responsible for Campomelic dysplasia and autosomal sex reversal.

PMID 10951468 2000 Acampomelic campomelic dysplasia with SOX9 mutation.

PMID 17352389 2007 Recurrent SOX9 deletion campomelic dysplasia due to somatic mosaicism in the father.