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

Open Access
Publisher Website
Google Scholar
Abstract
We previously reported frameshift and nonsense mutations in SALL4 in five of eight families segregating the Okihiro syndrome phenotype.5 A further report4 identified two frameshift mutations and one nonsense mutation in three affected kindreds, including the family reported by Okihiro et al.8 In a recent study of patients with the clinical diagnosis of Holt-Oram syndrome (OMIM No 142900), one additional frameshift mutation was reported from a family which turned out to have Okihiro syndrome rather than Holt-Oram syndrome.9 Furthermore, we reported three novel and one already identified SALL4 mutations in patients originally diagnosed as either Holt-Oram syndrome (later revised as Okihiro syndrome on the basis of the observation of a Duane anomaly in at least one of the affected family members in each family), acro-renal-ocular syndrome (OMIM No 102490), and Holt-Oram syndrome versus thalidomide embryopathy.10