Martinez-Frias syndrome: Evidence of linkage to RFX6 mutation

Mora, Maria Carmen; Volk, Joseph; Cuevas-Ocampo, Areli K; Wong, Kaitlyn E.; Rockwell, Gary; Tirabassi, Michael V.; Tashjian, David B.

doi:10.1016/j.epsc.2014.10.003

Cited by 3 publications

(6 citation statements)

References 9 publications

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“…The similarities among the cases, in terms of their genetic pattern of inheritance, phenotypic expression, and association with the RFX6 gene, suggest that they are the same entity with different clinical expressions. The identification of the RFX6 gene mutation in several of these published cases supports this theory; for that reason, MRS and MFS have been collectively referred to as the RFX6 gene mutation syndrome 1,5 …”

Section: Discussionmentioning

confidence: 78%

“…The identification of the RFX6 gene mutation in several of these published cases supports this theory; for that reason, MRS and MFS have been collectively referred to as the RFX6 gene mutation syndrome. 1,5 The clinical heterogeneity of this syndrome makes prenatal diagnosis very difficult. However, the identification of the genetic mutation in one of the family members makes necessary accurate genetic counseling of the parents regarding its consequences and the future of the baby.…”

Section: Discussionmentioning

confidence: 99%

“…The mutations of the RFX6 gene have been documented in most and some of the MRS and MFS cases, respectively. As such, some authors have referred to both syndromes as the RFX6 malformation complex 1,2,5 …”

Section: Introductionmentioning

confidence: 99%

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First multivisceral transplantation in Mitchell‐Riley/Martinez‐Frias syndrome

Estefanía

Andrés

Alcolea

et al. 2022

Pediatric Transplantation

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MRS/MFS is a rare genetic disorder with autosomal recessive inheritance. 1,2 MFS is characterized by the triad of pancreatic hypoplasia, intestinal atresia, and extrahepatic biliary hypoplasia, with or without tracheoesophageal fistula. 3 Patients who present the clinical triad of MFS, as well as neonatal diabetes, and an RFX6 gene mutation, are diagnosed with MRS. 4 The mutations of the RFX6 gene have

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Section: Discussionmentioning

confidence: 78%

Section: Discussionmentioning

confidence: 99%

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First multivisceral transplantation in Mitchell‐Riley/Martinez‐Frias syndrome

Estefanía

Andrés

Alcolea

et al. 2022

Pediatric Transplantation

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“…30 MFS has been linked to mutation of RFX6 gene. 31 Early expression of connective tissue growth factor (CTGF) and transforming growth factor-β 1 (TGF-β 1 ) in biliary cells and hypomethylation of DNA have been implicated in the pathogenesis of BA. 32,33 We report the only case with this unique association of BA, ACH, and ostium secundum ASD.…”

Section: Discussionmentioning

confidence: 99%

Achondroplasia and Biliary Atresia: A Rare Association and Review of Literature

Kylat

2017

J Pediatr Genet

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Achondroplasia (ACH) occurs in most cases as de novo mutations of the gene-encoding fibroblast growth factor receptor 3 (FGFR3). Biliary atresia (BA) is a progressive neonatal inflammatory and fibro-obliterative cholangiopathy affecting the extra- and intrahepatic biliary tree to varying degrees, and it results in obstruction to bile flow and cholestatic jaundice in neonates. BA is thought to be a multifactorial disease, genome association studies have shown abnormalities in susceptibility genes, and levels of fibroblast growth factor 21 (FGF21) and fibroblast growth factor 23 (FGF23) have been noted to be increased. These two conditions occurring in the same patient has never been reported before.

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“…Again in humans, an autosomal recessive inheritance pattern for familial cases has been proposed, albeit based on a limited number of isolated and historical case reports (Fonkalsrud et al, 1969;Berant and Kahana, 1970;Best et al, 1989;Gross et al, 1996;Lambrecht and Kluth, 1998). Finally, whilst associations between DA and specific chromosomal anomalies have been reported (Mora et al, 2014;Zamfir et al, 2016), none relate to Chromosome 21, or to Chromosome 5 which houses the FGF10 gene in humans.…”

Section: Introductionmentioning

confidence: 99%

The Role of Fibroblast Growth Factor 10 Signaling in Duodenal Atresia

et al. 2020

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Introduction: Duodenal atresia (DA) is a congenital bowel obstruction requiring major surgery in the first week of life. Three morphological phenotypes are described, reflecting increasing degrees of obstruction and discontinuity of the duodenum. The cause of DA is not known. Tandler's original "solid cord" hypothesis conflicts with recent biological evidence, and is unable to account for differing DA types. In humans, a genetic etiology is supported by the association between Trisomy 21 and DA, and reports of familial inheritance patterns. Interruption of FGF10/FGFR2b signaling is the best demonstrated genetic link to DA in mice, with 35-75% of homozygous knockout embryos developing DA. Purpose: This review examines the current evidence surrounding the etiology of DA. We focus on research regarding FGF10/FGFR2b signaling and its role in duodenal and other intestinal atresia. Further, we outline planned future research in this area, that we consider necessary to validate and better understand this murine model in order to successfully translate this research into clinical practice. Conclusion: Determining the etiology of DA in humans is a clinical and scientific imperative. Fgf10/Fgfr2b murine models represent current science's best key to unlocking this mystery. However, further research is required to understand the complex role of FGF10/FGFR2b signaling in DA development. Such complexity is expected, given the lethality of their associated defects makes ubiquitous interruption of either Fgf10 or Fgfr2b genes an unlikely cause of DA in humans. Rather, local or tissue-specific mutation in Fgf10, Fgfr2b, or their downstream targets, is the hypothesized basis of DA etiology.

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Martinez-Frias syndrome: Evidence of linkage to RFX6 mutation

Cited by 3 publications

References 9 publications

First multivisceral transplantation in Mitchell‐Riley/Martinez‐Frias syndrome

First multivisceral transplantation in Mitchell‐Riley/Martinez‐Frias syndrome

Achondroplasia and Biliary Atresia: A Rare Association and Review of Literature

The Role of Fibroblast Growth Factor 10 Signaling in Duodenal Atresia

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