2000
DOI: 10.1034/j.1399-0004.2000.580310.x
|View full text |Cite
|
Sign up to set email alerts
|

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

Abstract: The human SOX9 gene is responsible for the campomelic syndrome (CMPS) and sex reversal. This gene encodes a transcription factor containing a DNA binding 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 of the first ATG in the open reading frame, was identified in a patient with CMPS with sex reversal. The deletion resulted in a frameshift mutation upstream of the HMG box and a stop codon 30 bp downstream of the HMG… Show more

Help me understand this report

Search citation statements

Order By: Relevance

Paper Sections

Select...
1
1
1

Citation Types

0
12
0
1

Year Published

2005
2005
2017
2017

Publication Types

Select...
6
1

Relationship

0
7

Authors

Journals

citations
Cited by 13 publications
(13 citation statements)
references
References 18 publications
(21 reference statements)
0
12
0
1
Order By: Relevance
“…DSD and SOX9 regulatory elements Several point mutations and small insertions have been identified in patients with CD and 46,XY DSD (Cameron et al 1996;Foster et al 1994;Ninomiya et al 2000;Pop et al 2005;Wagner et al 1994). …”
Section: Regulatory Elementsmentioning
confidence: 98%
“…DSD and SOX9 regulatory elements Several point mutations and small insertions have been identified in patients with CD and 46,XY DSD (Cameron et al 1996;Foster et al 1994;Ninomiya et al 2000;Pop et al 2005;Wagner et al 1994). …”
Section: Regulatory Elementsmentioning
confidence: 98%
“…Genomic DNA was extracted from whole blood using a standard method. Amplification of the coding sequence of SOX9 by polymerase chain reaction (PCR) was carried out using 6 overlapping primer pairs as has been described previously [3,4]. Cycle sequencing of each segment was carried out in the forward and reverse directions.…”
Section: Genetic Studymentioning
confidence: 99%
“…In addition, a group of respiratory anomalies that includes lungs and chest of a small size, narrow air-passages, tracheomalacia, laryngomalacia associated with cleft palate, micrognathia, and hypotonia may be present. 11 The skeletal features that were the most prominent characteristics of CD as presented in our case including hypoplastic scapula, bilateral bowing of femurs, a small thoracic cavity and kyphoscoliosis.…”
Section: Proceedings In Obstetrics and Gynecology 2018;8(1):4mentioning
confidence: 99%