IVIC syndrome Is caused by a c.2607delA mutation in the <i>SALL4</i> locus

Paradisi, Irene; Arias, Sergio

doi:10.1002/ajmg.a.31603

Cited by 42 publications

(25 citation statements)

References 39 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Variations of SALL4 are associated with upper limb abnormality in humans (Kohlhase et al 2002; Paradisi and Arias 2007). Given what is known of the roles of this gene in limb development, the present GWAS findings suggest that it is a potential candidate gene for polydactyly in chickens.…”

Section: Discussionmentioning

confidence: 99%

Genome-Wide Linkage Analysis and Association Study Identifies Loci for Polydactyly in Chickens

Sun

Liu

Zhao

et al. 2014

G3 Genes|Genomes|Genetics

View full text Add to dashboard Cite

Polydactyly occurs in some chicken breeds, but the molecular mechanism remains incompletely understood. Combined genome-wide linkage analysis and association study (GWAS) for chicken polydactyly helps identify loci or candidate genes for the trait and potentially provides further mechanistic understanding of this phenotype in chickens and perhaps other species. The linkage analysis and GWAS for polydactyly was conducted using an F2 population derived from Beijing-You chickens and commercial broilers. The results identified two QTLs through linkage analysis and seven single-nucleotide polymorphisms (SNPs) through GWAS, associated with the polydactyly trait. One QTL located at 35 cM on the GGA2 was significant at the 1% genome-wise level and another QTL at the 1% chromosome-wide significance level was detected at 39 cM on GGA19. A total of seven SNPs, four of 5% genome-wide significance (P < 2.98 × 10−6) and three of suggestive significance (5.96 × 10−5) were identified, including two SNPs (GGaluGA132178 and Gga_rs14135036) in the QTL on GGA2. Of the identified SNPs, the eight nearest genes were sonic hedgehog (SHH), limb region 1 homolog (mouse) (LMBR1), dipeptidyl-peptidase 6, transcript variant 3 (DPP6), thyroid-stimulating hormone, beta (TSHB), sal-like 4 (Drosophila) (SALL4), par-6 partitioning defective 6 homolog beta (Caenorhabditis elegans) (PARD6B), coenzyme Q5 (COQ5), and tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, etapolypeptide (YWHAH). The GWAS supports earlier reports of the importance of SHH and LMBR1 as regulating genes for polydactyly in chickens and other species, and identified others, most of which have not previously been associated with limb development. The genes and associated SNPs revealed here provide detailed information for further exploring the molecular and developmental mechanisms underlying polydactyly.

show abstract

Section: Discussionmentioning

confidence: 99%

Genome-Wide Linkage Analysis and Association Study Identifies Loci for Polydactyly in Chickens

Sun

Liu

Zhao

et al. 2014

G3 Genes|Genomes|Genetics

View full text Add to dashboard Cite

show abstract

“…Mutations in the SALL4 gene have been shown to cause autosomal dominant diseases such as Okihiro/Duane-radial ray syndrome (DRRS; MIM 607323) 454 , acro-renal-ocular syndrome (AROS; MIM 102490), Instituto Venezolano de Investigaciones Cientificas syndrome (IVIC) 55 , and are suspected to cause thalidomide embryopathy 5657 . The phenotype of Okihiro/Duane-radial ray syndrome has overlap with several other syndromes such as Holt Oram syndrome (HOS; MIM 142900) 58 , which is caused by TBX5 mutations and Townes-Brocks syndrome, which is caused by SALL1 mutations (TBS; MIM 107480) 59 .…”

Section: Function Of Sall4 In Stem Cells and Developmentmentioning

confidence: 99%

SALL4, the missing link between stem cells, development and cancer

Tatetsu

Kong

Gao

et al. 2016

Gene

109

View full text Add to dashboard Cite

There is a growing body of evidence supporting that cancer cells share many similarities with embryonic stem cells (ESCs). For example, aggressive cancers and ESCs share a common gene expression signature that includes hundreds of genes. Since ESC genes are not present in most adult tissues, they could be ideal candidate targets for cancer-specific diagnosis and treatment. This is an exciting cancer-targeting model. The major hurdle to test this model is to identify the key factors/pathway(s) within ESCs that are responsible for the cancer phenotype. SALL4 is one of few genes that can establish this link. The first publication of SALL4 is on its mutation in a human inherited disorder with multiple developmental defects. Since then, over 300 papers have been published on various aspects of this gene in stem cells, development, and cancers. This review aims to summarize our current knowledge of SALL4, including a SALL4-based approach to classify and target cancers. Many questions about this important gene still remain unanswered, specifically, on how this gene regulates cell fates at a molecular level. Understanding SALL4’s molecular functions will allow development of specific targeted approaches in the future.

show abstract

“…The autosomal dominant DRRS, also known as Okihiro or acro-renal-ocular syndrome (OMIM #607323), is characterized by the Duane anomaly (restricted lateral eye movement because of abducens nerve palsy) in combination with upper limb and renal abnormalities and occasionally anogenital abnormalities and colonic aganglionosis [12][13][14][15][16][17][18][19][20]. The IVIC syndrome (OMIM #147750) is similar to DRRS, with the additional findings of cardiac malformations, carpal osseous fusion, thrombocytopenia, and leukocytosis [21].…”

Section: Sall4 Expression In Kidney 641mentioning

confidence: 99%

Immunoexpression of SALL4 in Wilms Tumors and Developing Kidney

Deisch

Raisanen

Rakheja

2011

Pathol. Oncol. Res.

View full text Add to dashboard Cite

SALL4 is a zinc finger transcription factor that plays a role in the maintainance and pluripotency of embryonic stem cell and is important in renal development where SALL4 mutations give rise to renal malformations. Because Wilms tumor recapitulates renal embryogenesis, we hypothesized that Wilms tumor cells may also express SALL4. We performed immunohistochemistry for SALL4 on tissue microarray sections of Wilms tumors, nephrogenic rests, and fetal renal cortices. Half (26 out of 52) of the Wilms tumors showed SALL4 immunoreactivity, ranging from strong and diffuse to focal and weak. Blastemal, epithelial, and combined blastemal and epithelial patterns of immunoreactivity were identified. No cases showed stromal staining. In the fetal kidney, SALL4 expression was restricted to the blastema and primitive epithelium at 15 weeks' gestation. SALL4 staining was not seen at later gestational ages, in non-neoplastic postnatal kidneys, or in nephrogenic rests. Our study is the first to demonstrate SALL4 immunoreactivity in Wilms tumors and in developing fetal kidney. The absence of SALL4 staining in nephrogenic rests, the presumed precursors of Wilms tumors, is intriguing and suggests that Wilms tumors have a pluripotency quality that may be lacking in nephrogenic rests.

show abstract

IVIC syndrome Is caused by a c.2607delA mutation in the SALL4 locus

Cited by 42 publications

References 39 publications

Genome-Wide Linkage Analysis and Association Study Identifies Loci for Polydactyly in Chickens

Genome-Wide Linkage Analysis and Association Study Identifies Loci for Polydactyly in Chickens

SALL4, the missing link between stem cells, development and cancer

Immunoexpression of SALL4 in Wilms Tumors and Developing Kidney

Contact Info

Product

Resources

About