Home Page |
References | OMIM | Gene | GeneReviews | HGMD | HGNC |
GENATLAS PHENOTYPE |
last update : 31/01/2006 |
Symbol | SCRA |
Location | 7q36 |
Name | Currarino syndrome |
Other name(s) | Currarino triad |
Corresponding gene | MNX1 |
Other symbol(s) | SACRA |
Main clinical features |
|
Genetic determination | autosomal dominant |
Related entries | DEL7Q36 |
Function/system disorder | osteo-articular |
congenital malformation | |
digestive tract/gastrointestinal | |
Type | malformation |
Gene product |
Name | encodes HB9 transcription factor and interact with DNA through a highly conserved homeodomain early in embyonic development |
Mechanism(s) |
Gene mutation | Chromosome rearrangement | Effect | Comments |
| frameshift
|  
| truncated protein
| frameshift or nonsense represent 57 p100 of those identified
|  
| deletion
| haploinsufficiency
| deletions of 7q36 including HLXB9, may be cryptic requiring FISH for diagnosis
| |
Remark(s) | mutation detection rate is about 50 percent, and 90 percent in familial case |
Genotype/Phenotype correlations | mutations in the HLXB9/MNX1 gene can predict neither the severity nor the long-term prognosis of the disease. Due to a lack of genotype-phenotype correlation and the broad variability of phenotype in heterozygotes, clinical and genetic investigations among relatives are mandatory in all HLXB9 gene mutation cases, to detect asymptomatic CS cases and to prevent the occurrence of severe complications |