ClinGen Dosage Sensitivity Curation Page

SALL4

  • Curation Status: Complete

Location Information

Select assembly: (NC_000020.10) (NC_000020.11)
Evidence for haploinsufficiency phenotype
PubMed ID Description
12843316 Kohlhase et al. (2002) identified a heterozygous C-T transition in the SALL4 gene in affected individuals of a 3 generation family with Duane-radial ray syndrome. This mutation results in a gln652-to-ter (Q652X) mutation. The resultant protein was predicted to lack the third (carboxyterminal) double zinc finger domain. In another 3 generation family with Duane-radial ray syndrome, Kohlhase et al. (2002) identifed a heterozygous 1-basepair deletion (1053G) in affected members. The mutation was predicted to result in a truncated protein lacking all 3 double zinc finger motifs.
12395297 Al-Baradie et al. (2002) identified a heterozygous C-to-T transition in exon 3 of the SALL4 gene in affected members of a family with Duane-radial ray syndrome. This mutation results in an arg-to-ter (R865X) substitution.

Haploinsufficiency phenotype comments:

Mutations in SALL4 have also been associated with acro-renal-ocular syndrome and Holt-Oram syndrome (see GeneReviews for additional information).

  • Triplosensitivity score: 0
  • Strength of Evidence (disclaimer): No evidence for dosage pathogenicity