Thalidomide promotes degradation of SALL4, a transcription factor implicated in Duane Radial Ray syndrome

Clinical and Genetic Findings in Mexican Patients with Duane Anomaly and Radial Ray Malformations/Okihiro Syndrome.

BACKGROUND Okihiro syndrome is an autosomal-dominant condition characterized by radial ray malformations associated with Duane anomaly and other clinical characteristics. SALL4 mutations have been identified in 80-90% of patients with Duane- Radial ray defects/Okihiro syndrome. We report the clinical findings and results of SALL4 sequencing from a group of Mexican patients with this disorder. ...

metabolic syndrome and mitochondrial transcription factor a

Function of the Developmental Transcription Factor SALL4 in Cancer

Up-regulation of some developmental genes has been observed in cancerous tissues and cancer cells. Sal-like 4 (SALL4), a member of the homologs of Dorosophila spalt (sal) gene, plays a key role in early development and organogenesis. SALL4 encodes a C2H2 multiple zinc finger protein, and is a causative gene for Okihiro/Duane radial ray syndrome, the major symptoms of which are limb malformation...

Duane retraction syndrome in a Nigerian child

We report a case of a four year old Nigerian girl who presented to the paediatric unit of our eye clinic with complaints of a squint on looking to the right side and reduction in the size of the right eye when looking to the left. On examination, she had right exotropia in the primary position of gaze. There was limitation of abduction and widening of the palpebral fissure of the right eye on r...

SALL4 deletions are a common cause of Okihiro and acro-renal-ocular syndromes and confirm haploinsufficiency as the pathogenic mechanism.

T he SALL genes, similar to the Drosophila gene spalt, probably encode zinc-finger transcription factors. In humans, four such genes have been identified to date. Mutations at SALL1 on chromosome 16q12.1 have been associated with Townes-Brocks syndrome and related phenotypes, 3 and mutations at SALL4 have been shown to be causative in patients with Okihiro/Duane-radial ray syndrome (OMIM No 607...