Matthew-Wood Syndrome Is Caused by Truncating Mutations in the Retinol-Binding Protein Receptor Gene STRA6

Golzio, Christelle; Martinovic-Bouriel, Jelena; Thomas, Sophie; Mougou-Zrelli, Soumaya; Grattagliano-Bessières, Bettina; Bonnière, Maryse; Delahaye, S.; Münnich, Arnold; Encha‐Razavi, Férechté; Lyonnet, Stanislas; Vekemans, Michel; Attié‐Bitach, Tania; Etchevers, Heather C.

doi:10.1086/518177

Cited by 180 publications

(185 citation statements)

References 43 publications

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“…Negative molecular analysis for STRA6 mutations in some PDAC patients suggests that this spectrum of anomalies is probably genetically heterogeneous, even though STRA6 screening may ignore some mutations (such as exonic rearrangements, splicing mutations distant from the coding sequence, or mutations in regulatory sequences) Golzio et al, 2007;Pasutto et al, 2007). STRA6 was recently identified as the cell membrane receptor for plasma retinol binding protein, which transfers circulating vitamin A from the blood into target cells (Kawaguchi et al, 2007).…”

Section: Resultsmentioning

confidence: 99%

“…Variable combinations of microphthalmia/anophthalmia, pulmonary agenesis/dysplasia, diaphragmatic hernia and malformative cardiac defects have been infrequently reported over the last three decades (Ostor et al, 1978;Spear et al, 1987;Smith et al, 1994;Seller et al, 1996;Berkenstadt et al, 1999;Priolo et al, 2004;Lee et al, 2006;Li and Wei, 2006;Chitayat et al, 2007;Golzio et al, 2007;Pasutto et al, 2007). Such associations have been called Matthew-Wood or Spear syndrome, while Chitayat et al (2007) devised the acronym PDAC (Pulmonary hypoplasia/agenesis, Diaphragmatic hernia/eventration, Anophthalmia/microphthalmia and Cardiac Defect), and the Mendelian Inheritance in Man database has adopted the term MCOPS9 for "syndromic microphthalmia 9" (MIM# 601186).…”

Section: Introductionmentioning

confidence: 99%

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Phenotypic spectrum ofSTRA6mutations: from Matthew-Wood syndrome to non-lethal anophthalmia

et al. 2009

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Matthew-Wood, Spear, PDAC or MCOPS9 syndrome are alternative names used to refer to combinations of microphthalmia/anophthalmia, malformative cardiac defects, pulmonary dysgenesis, and diaphragmatic hernia. Recently, mutations in STRA6, encoding a membrane receptor for vitamin A-bearing plasma retinol binding protein, have been identified in such patients. We performed STRA6 molecular analysis in three fetuses and one child diagnosed with Matthew-Wood syndrome and in three siblings where two adult living brothers are affected with combinations of clinical anophthalmia, tetralogy of Fallot, and mental retardation. Among these patients, six novel mutations were identified, bringing the current total of known STRA6 mutations to seventeen. We extensively reviewed clinical data pertaining to all twenty-one reported patients with STRA6 mutations (the seven of this report and fourteen described elsewhere) and discuss additional features that may be part of the syndrome. The clinical spectrum associated with STRA6 deficiency is even more variable than initially described.

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Section: Resultsmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Phenotypic spectrum ofSTRA6mutations: from Matthew-Wood syndrome to non-lethal anophthalmia

et al. 2009

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“…The role of RA in lung is clearly relevant to humans because mutations in the RA pathway are associated with syndromes linked to disrupted lung development, including PAGOD syndrome [118] and Matthew Wood syndrome that results from mutations in STRA6 [119]. Later roles for RA in lung maturation have also recently been demonstrated.…”

Section: Retinoic Acid and The Lungmentioning

confidence: 99%

Retinoic Acid and the Development of the Endoderm

Kelly

Drysdale

2015

JDB

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Retinoic acid (RA) is an important signaling molecule in the development of the endoderm and an important molecule in protocols used to generate endodermal cell types from stem cells. In this review, we describe the RA signaling pathway and its role in the patterning and specification of the extra embryonic endoderm and different endodermal organs. The formation of endoderm is an ancient evolutionary feature and RA signaling appears to have coevolved with the vertebrate lineage. Towards that end, we describe how RA participates in many regulatory networks required for the formation of extraembryonic structures as well as the organs of the embryo proper.

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“…Stra6 is a membrane bound receptor that binds to the serum retinol binding protein (RBP4), a carrier of retinol in the blood, and Stra6 both facilitates uptake of retinol and cell signaling via STAT5 (Berry et al, 2011;Kawaguchi et al, 2007). Mutations in Stra6 cause a wide range of defects that include anophthalmia, pulmonary agenesis, diaphragmatic hernia, pancreatic malformations, mental retardation, and congenital heart defects (Golzio et al, 2007;Pasutto et al, 2007). Lrat is an enzyme that converts intracellular retinol to retinyl esters; such esters are a storage form of retinoids in the cell (Amengual et al, 2012;Batten et al, 2004;Guo and Gudas, 1998;Liu and Gudas, 2005;O'Byrne et al, 2005;Zolfaghari and Ross, 2000).…”

Section: Identification Of Differentially Expressed Genes In Wt and Rmentioning

confidence: 99%

RARγ is Essential for Retinoic Acid Induced Chromatin Remodeling and Transcriptional Activation in Embryonic Stem Cells

Kashyap

Laursen

Brenet

et al. 2012

Journal of Cell Science

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SummaryWe have utilized retinoic acid receptor c (gamma) knockout (RARc 2/2 ) embryonic stem (ES) cells as a model system to analyze RARc mediated transcriptional regulation of stem cell differentiation. Most of the transcripts regulated by all-trans retinoic acid (RA) in ES cells are dependent upon functional RARc signaling. Notably, many of these RA-RARc target genes are implicated in retinoid uptake and metabolism. For instance, Lrat (lecithin:retinol acyltransferase), Stra6 (stimulated by retinoic acid 6), Crabp2 (cellular retinoic acid binding protein 2), and Cyp26a1 (cytochrome p450 26a1) transcripts are induced in wild type (WT), but not in RARc 2/2 cells. Transcripts for the transcription factors Pbx1 (pre-B cell leukemia homeobox-1), Wt1 (Wilm's tumor gene-1), and Meis1 (myeloid ecotropic viral integration site-1) increase upon RA treatment of WT, but not RARc 2/2 cells. In contrast, Stra8, Dleu7, Leftb, Pitx2, and Cdx1 mRNAs are induced by RA even in the absence of RARc. Mapping of the epigenetic signature of Meis1 revealed that RA induces a rapid increase in the H3K9/ K14ac epigenetic mark at the proximal promoter and at two sites downstream of the transcription start site in WT, but not in RARc 2/2 cells. Thus, RA-associated increases in H3K9/K14ac epigenetic marks require RARc and are associated with increased Meis1 transcript levels, whereas H3K4me3 is present at the Meis1 proximal promoter even in the absence of RARc. In contrast, at the Lrat proximal promoter primarily the H3K4me3 mark, and not the H3K9/K14ac mark, increases in response to RA, independently of the presence of RARc. Our data show major epigenetic changes associated with addition of the RARc agonist RA in ES cells.

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Matthew-Wood Syndrome Is Caused by Truncating Mutations in the Retinol-Binding Protein Receptor Gene STRA6

Cited by 180 publications

References 43 publications

Phenotypic spectrum ofSTRA6mutations: from Matthew-Wood syndrome to non-lethal anophthalmia

Phenotypic spectrum ofSTRA6mutations: from Matthew-Wood syndrome to non-lethal anophthalmia

Retinoic Acid and the Development of the Endoderm

RARγ is Essential for Retinoic Acid Induced Chromatin Remodeling and Transcriptional Activation in Embryonic Stem Cells

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