Abstract |
We have recently shown that Okihiro syndrome results from mutation in the putative zinc finger transcription factor gene SALL4 on chromosome 20q13.13-13.2. There is considerable overlap of clinical features of Okihiro syndrome with other conditions, most notably Holt-Oram syndrome, a condition in part resulting from mutation of the TBX5 locus, as well as acro-renal-ocular syndrome. We analysed further families/patients with the clinical diagnosis of Holt-Oram syndrome and acro-renal-ocular syndrome for SALL4 mutations. We identified a novel SALL4 mutation in one family where the father was originally thought to have thalidomide embryopathy and had a daughter with a similar phenotype. We also found two novel mutations in two German families originally diagnosed as Holt-Oram syndrome and a further mutation in one out of two families carrying the diagnosis acro-renal-ocular syndrome. Our results show that some cases of " thalidomide embryopathy" might be the result of SALL4 mutations, resulting in an increased risk for similarly affected offspring. Furthermore we confirm the overlap of acro-renal-ocular syndrome with Okihiro syndrome at the molecular level and expand the phenotype of SALL4 mutations.
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Authors | J Kohlhase, L Schubert, M Liebers, A Rauch, K Becker, S N Mohammed, R Newbury-Ecob, W Reardon |
Journal | Journal of medical genetics
(J Med Genet)
Vol. 40
Issue 7
Pg. 473-8
(Jul 2003)
ISSN: 1468-6244 [Electronic] England |
PMID | 12843316
(Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
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Chemical References |
- SALL4 protein, human
- Transcription Factors
- Thalidomide
- DNA
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Topics |
- Abnormalities, Multiple
(genetics, pathology)
- Base Sequence
- Chromosomes, Human, Pair 20
(genetics)
- DNA
(chemistry, genetics)
- DNA Mutational Analysis
- Duane Retraction Syndrome
(genetics, pathology)
- Family Health
- Female
- Fetal Diseases
(chemically induced, genetics)
- Hand Deformities, Congenital
(pathology)
- Heart Septal Defects, Atrial
(pathology)
- Humans
- Kidney
(abnormalities)
- Male
- Mutation
- Pedigree
- Phenotype
- Thalidomide
(adverse effects)
- Thumb
(abnormalities)
- Transcription Factors
(genetics)
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