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GENATLAS PHENOTYPE |
last update : 26/06/2006 |
Symbol | DRRS |
Location | 20q13.2 |
Name | Duane radial ray syndrome |
Other name(s) |
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Corresponding gene | SALL4 |
Other symbol(s) | DRRD, DURS, DEL20Q13 |
Main clinical features |
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Genetic determination | autosomal dominant |
Related entries | Okihiro syndrome mimicking sometimes Holt-Oram , acrorenal-ocular syndrome, hemifacial microsomia |
Function/system disorder | osteo-articular |
ear | |
eye | |
Type | malformation |
Gene product |
Name | sal-like 4 |
Mechanism(s) |
Gene mutation | Chromosome rearrangement | Effect | Comments |
| nonsense
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| truncated protein
| mutation R905X leading to premature stop codon
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| deletion
| haploinsufficiency
| submicroscopic multigene deletions , 1.76 to 2.8Mb in size in 4 unrelated cases
| deletion
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| haploinsufficiency
| whole coding region or single exon deletions
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Remark(s) |
Genotype/Phenotype correlations |
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