Intrauterine growth retardation, duodenal and extrahepatic biliary atresia, hypoplastic pancreas and other intestinal anomalies: Further evidence of the Martínez-Frías syndrome

Galán-Gómez, Enrique; Sánchez, Emilio Blesa; Arias-Castro, Sonia; Cardesa-Garcia, J.

doi:10.1016/j.ejmg.2006.12.001

Cited by 21 publications

(16 citation statements)

References 4 publications

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“…However, similar to other patients, this infant also had several features overlapping with the Martinez-Frias syndrome such as hypothyroidism (4,12,13,14), severe IUGR, and hypospadias (4,15). In most of the previously known patients, severe hypoplasia or aplasia of the gall bladder and biliary atresia with acholia were the main features and the Kasai procedure was successfully carried out in one of these patients (2,10,12,13,14). Although the gall bladder could not be visualized on the HIDA scan, in the MRI scan nor per-operatively, our patient never had acholic stools.…”

Section: Discussionsupporting

confidence: 80%

“…Although this infant had the classical features of the Mitchell-Riley syndrome including neonatal diabetes, pancreatic hypoplasia, duodenal atresia, gall bladder aplasia, he did not have malrotation or biliary atresia. The infant also had chronic diarrhoea/malabsorption due to severe exocrine pancreatic insufficiency and cholestatic jaundice, findings which have been reported in most of the published cases (5,6,9,10,12). He even had hemochromatosis, reported only by Martinovici et al (5).…”

Section: Discussionmentioning

confidence: 58%

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A Newly-Discovered Mutation in the RFX6 Gene of the Rare Mitchell-Riley Syndrome

Khan

Dandan²,

Hassani³

et al. 2016

Jcrpe

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Mitchell-Riley syndrome is a genetic disorder characterized by neonatal diabetes, pancreatic hypoplasia, intestinal atresia and/or malrotation, biliary atresia, and gallbladder aplasia or hypoplasia. It was considered a variant of the Martinez-Frias syndrome with similar phenotypic characteristics, except for neonatal diabetes and tracheoesophageal fistula. However, the genetic mutation in (regulatory factor X on chromosome 6) RFX6 was only detected in babies who had diabetes, making it different from the previously known mutations for the disease. This is the first reported case of a classical Mitchell-Riley syndrome in the Arab peninsula along with additional features and novel mutations in the RFX6 gene.

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Section: Discussionsupporting

confidence: 80%

Section: Discussionmentioning

confidence: 58%

A Newly-Discovered Mutation in the RFX6 Gene of the Rare Mitchell-Riley Syndrome

Khan

Dandan²,

Hassani³

et al. 2016

Jcrpe

View full text Add to dashboard Cite

show abstract

“…This finding suggests a developmental link between the biliary system and the pancreas (Burke et al, 2004; Fukuda et al, 2006; Sumazaki et al, 2004). This possibility is further supported by reports of congenital defects in humans in which linked anomalies affect both the pancreas and biliary system (Ashraf et al, 2005; Chappell et al, 2008; Galan-Gomez et al, 2007; Heij and Niessen, 1987; Iguchi et al, 2005; Martinoli et al, 1980; Mehes et al, 1976; Mitchell et al, 2004). Despite all of this correlative evidence, the lineage relationship between the biliary system and either the liver or the pancreas has not been experimentally demonstrated.…”

Section: Introductionmentioning

confidence: 72%

Sox17 Regulates Organ Lineage Segregation of Ventral Foregut Progenitor Cells

et al. 2009

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SUMMARY The ventral pancreas, biliary system and liver arise from the posterior ventral foregut, but the cell-intrinsic pathway by which these organ lineages are separated is not known. Here we show that the extrahepatobiliary system shares a common origin with the ventral pancreas and not the liver, as previously thought. These pancreatobiliary progenitor cells coexpress the transcription factors Pdx1 and Sox17 at e8.5 and their segregation into a Pdx1+ ventral pancreas and a Sox17+ biliary primordium is Sox17-dependant. Deletion of Sox17 at e8.5 results in the loss of biliary structures and ectopic pancreatic tissue in the liver bud and common duct, while Sox17 overexpression suppresses pancreas development and promotes ectopic biliary-like tissue throughout the Pdx1+ domain. Restricting Sox17+ biliary progenitor cells to the ventral region of the gut requires the notch effector Hes1. Our results highlight the role of Sox17 and Hes1 in patterning and morphogenetic segregation of ventral foregut lineages.

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“…In particular, numerous cases of congenital non-syndromic or syndromic extrahepatic biliary atresia have been reported [49] and their causes remain unknown [50]. These conditions likely have multifactorial causes and do not display simple Mendelian inheritance.…”

Section: Discussionmentioning

confidence: 99%

sox9b Is a Key Regulator of Pancreaticobiliary Ductal System Development

et al. 2012

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The pancreaticobiliary ductal system connects the liver and pancreas to the intestine. It is composed of the hepatopancreatic ductal (HPD) system as well as the intrahepatic biliary ducts and the intrapancreatic ducts. Despite its physiological importance, the development of the pancreaticobiliary ductal system remains poorly understood. The SRY-related transcription factor SOX9 is expressed in the mammalian pancreaticobiliary ductal system, but the perinatal lethality of Sox9 heterozygous mice makes loss-of-function analyses challenging. We turned to the zebrafish to assess the role of SOX9 in pancreaticobiliary ductal system development. We first show that zebrafish sox9b recapitulates the expression pattern of mouse Sox9 in the pancreaticobiliary ductal system and use a nonsense allele of sox9b, sox9bfh313, to dissect its function in the morphogenesis of this structure. Strikingly, sox9bfh313 homozygous mutants survive to adulthood and exhibit cholestasis associated with hepatic and pancreatic duct proliferation, cyst formation, and fibrosis. Analysis of sox9bfh313 mutant embryos and larvae reveals that the HPD cells appear to mis-differentiate towards hepatic and/or pancreatic fates, resulting in a dysmorphic structure. The intrahepatic biliary cells are specified but fail to assemble into a functional network. Similarly, intrapancreatic duct formation is severely impaired in sox9bfh313 mutants, while the embryonic endocrine and acinar compartments appear unaffected. The defects in the intrahepatic and intrapancreatic ducts of sox9bfh313 mutants worsen during larval and juvenile stages, prompting the adult phenotype. We further show that Sox9b interacts with Notch signaling to regulate intrahepatic biliary network formation: sox9b expression is positively regulated by Notch signaling, while Sox9b function is required to maintain Notch signaling in the intrahepatic biliary cells. Together, these data reveal key roles for SOX9 in the morphogenesis of the pancreaticobiliary ductal system, and they cast human Sox9 as a candidate gene for pancreaticobiliary duct malformation-related pathologies.

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Intrauterine growth retardation, duodenal and extrahepatic biliary atresia, hypoplastic pancreas and other intestinal anomalies: Further evidence of the Martínez-Frías syndrome

Cited by 21 publications

References 4 publications

A Newly-Discovered Mutation in the RFX6 Gene of the Rare Mitchell-Riley Syndrome

A Newly-Discovered Mutation in the RFX6 Gene of the Rare Mitchell-Riley Syndrome

Sox17 Regulates Organ Lineage Segregation of Ventral Foregut Progenitor Cells

sox9b Is a Key Regulator of Pancreaticobiliary Ductal System Development

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