Home Page |
References | OMIM | Gene | GeneReviews | HGMD | HGNC |
GENATLAS PHENOTYPE |
last update : 28/12/2005 |
Symbol | WHSCR |
Location | 4p16.3 |
Name | Wolf-Hirschhorn syndrome, mild form |
Corresponding gene | WHSC1 , WHSC2 |
Other symbol(s) | DEL4P16, WHS |
Main clinical features |
|
Genetic determination | chromosomal |
Related entries | Pitt-Rogers-Danks syndrome (PRDS), WHS for classical phenotype |
Function/system disorder | multisystem/generalized |
mental retardation | |
Type | MCA/MR |
Mechanism(s) |
Gene mutation | Chromosome rearrangement | Effect | Comments |
|  
| deletion
| haploinsufficiency
| microdeletion less than 3,5 Mb, usually detected by FISH
| |
Remark(s) | WHSC1 might function together with developmental transcription factors to prevent the inappropriate transcription that can lead to various pathophysiologies (Nimura,2009) |
Genotype/Phenotype correlations | subtle subtelomeric deletions do not result in the WHS or WHSCR phenotype; monosomy of the first 400 kb of 4p is likely not pathogenic and can be inherited from a normal parent; deletions extending into the 1.4 Mb region do appear pathogenic; however, the phenotype is a relatively mild developmental delay with possible seizures and growth delay. Finally, deletions extending into the 1.8–1.9 Mb region can result in a phenotype with significant overlap and perhaps even classification of a mild WHS phenotype; terminal deletions larger than 1.9 Mb clearly result in the full WHS phenotype |