Two novel <i>STRA6</i> mutations in a patient with anophthalmia and diaphragmatic eventration

West, Brian L.; Bove, Kevin E.; Slavotinek, Anne

doi:10.1002/ajmg.a.32682

Cited by 24 publications

(29 citation statements)

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“…It is interesting to note that apart from clinical anophthalmia, none of the other principal features of PDAC syndrome (diaphragmatic, pulmonary or cardiac involvement) is systematically present in those patients with STRA6 mutations currently reported. Including these seven cases, mutations in STRA6 have been observed in 21 phenotypically diverse patients sharing features of the MCOPS9 syndrome Pasutto et al, 2007;White et al, 2008;West et al, 2009). Their clinical presentation is summarized in Table 1.…”

Section: Resultsmentioning

confidence: 99%

“…Moreover, additional features appear to be associated with STRA6 mutations, such as renal abnormalities (6/21), intra-uterine growth retardation (3/21), uterine malformations (2/21), and spleen and/or pancreatic malformations with attendant duodenal atresia (2/21) White et al, 2008;West et al, 2009). Interestingly, mental retardation appears to be a constant finding in living patients.…”

Section: Resultsmentioning

confidence: 99%

“…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). Recently, mutations in STRA6 (MIM# 610745), encoding a membrane receptor for the vitamin A-bearing plasma retinol binding protein, have been found in patients with malformations in the PDAC spectrum Pasutto et al, 2007;White et al, 2008;West et al, 2009).…”

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: Resultsmentioning

confidence: 99%

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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“…Mutations of STRA6 in humans are associated with Matthew-Wood syndrome, which is characterized by pleiotropic, multisystem malformations that include cardiac deformities and ocular defects (19)(20)(21)(22), which are consistent with abnormalities seen in altered vitamin A metabolism. Studies with STRA6 null mice show that STRA6 is important for retinol uptake and processing of retinol by the retinal pigment epithelium, but STRA6 is not the only pathway for retinol uptake in the retinal pigment epithelium (23).…”

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confidence: 99%

Downregulation of STRA6 in Adipocytes and Adipose Stromovascular Fraction in Obesity and Effects of Adipocyte-Specific STRA6 Knockdown In Vivo

Zemany

Kraus

Norseen

et al. 2014

Molecular and Cellular Biology

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bTo investigate the mechanisms by which elevated retinol-binding protein 4 (RBP4) causes insulin resistance, we studied the role of the high-affinity receptor for RBP4, STRA6 (stimulated by retinoic acid), in insulin resistance and obesity. In high-fat-diet-fed and ob/ob mice, STRA6 expression was decreased 70 to 95% in perigonadal adipocytes and both perigonadal and subcutaneous adipose stromovascular cells. To determine whether downregulation of STRA6 in adipocytes contributes to insulin resistance, we generated adipose-Stra6 ؊/؊ mice. Adipose-Stra6 ؊/؊ mice fed chow had decreased body weight, fat mass, leptin levels, insulin levels, and adipocyte number and increased expression of brown fat-selective markers in white adipose tissue. When fed a highfat diet, these mice had a mild improvement in insulin sensitivity at an age when adiposity was unchanged. STRA6 has been implicated in retinol uptake, but retinol uptake and the expression of retinoid homeostatic genes (encoding retinoic acid receptor ␤ [RAR␤], CYP26A1, and lecithin retinol acyltransferase) were not altered in adipocytes from adipose-Stra6 ؊/؊ mice, indicating that retinoid homeostasis was maintained with STRA6 knockdown. Thus, STRA6 reduction in adipocytes in adipose-Stra6 ؊/؊ mice fed chow resulted in leanness, which may contribute to their increased insulin sensitivity. However, in wild-type mice with high-fat-diet-induced obesity and in ob/ob mice, the marked downregulation of STRA6 in adipocytes and adipose stromovascular cells does not compensate for obesity-associated insulin resistance.T hree hundred fifty million people worldwide have diabetes (1), and the impact will be staggering if we do not develop more effective methods for early detection and treatment. Serum retinol-binding protein 4 (RBP4) is elevated in humans and rodents with insulin resistance and type 2 diabetes (2-4), and data suggest that it may play a causative role (4, 5). Injection of purified RBP4 or overexpression of RBP4 in mice causes insulin resistance (4). Furthermore, a gain-of-function polymorphism in the RBP4 promoter is associated with an 80% increased risk of developing diabetes in humans (5). In addition, epidemiologic studies in several ethnic backgrounds indicate that elevated RBP4 is an early marker of prediabetes (6) and metabolic syndrome (7,8) and is associated with a 3.6-fold increased risk of myocardial infarction (9).The mechanisms by which RBP4 causes insulin resistance and whether the actions of RBP4 depend on a receptor are questions of high interest in the field. STRA6 is a high-affinity cell surface receptor for RBP4 that mediates vitamin A uptake (10). STRA6 is highly expressed in blood-organ barriers and in the brain, eye, kidney, testis, and female reproductive tract, and it is absent from the liver (11). STRA6 is upregulated in some tumors, and its expression can be induced by retinoids and increased Wnt-1 expression in mammary epithelial cells (12). RBP4 mediates insulin resistance through STRA6-independent (13, 14) and STRA6-dependent pathwa...

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“…STRA6 (gen estimulado por ácido retinoico) codifica una proteína del mismo nombre que funciona como un receptor celular para captar y transportar retinol a tejidos específicos, principalmente al ojo 39,40 . STRA6 se encuentra ubicado en el cromosoma 15q24.1 y sus mutaciones originan anoftalmia, defectos cardiacos, hipoplasia pulmonar y hernia diafragmática 41,42 , lo que indica la importancia de este gen en el desarrollo embrionario normal.…”

Section: Stra6unclassified

Genes relacionados con microftalmia y anoftalmia hereditarias

Matías-Pérez

García-Montalvo

Zenteno

2017

GMM

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Two novel STRA6 mutations in a patient with anophthalmia and diaphragmatic eventration

Cited by 24 publications

References 9 publications

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

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

Downregulation of STRA6 in Adipocytes and Adipose Stromovascular Fraction in Obesity and Effects of Adipocyte-Specific STRA6 Knockdown In Vivo

Genes relacionados con microftalmia y anoftalmia hereditarias

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