The Role of Fibroblast Growth Factor 10 Signaling in Duodenal Atresia

Jones, Matthew L. M.; Sarila, Gulcan; Chapuis, Pierre; Hutson, John M.; King, Sebastian K.; Teague, Warwick J.

doi:10.3389/fphar.2020.00250

Cited by 7 publications

(3 citation statements)

References 56 publications

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“…Mice lacking Fgf10 or Fgfr2b have impaired development of the stomach, duodenum, cecum, and colon (Danopoulos et al, 2017; Kowalkowski et al, 2020; Lv et al, 2019). For example, genetic knockout of Fgf10 or Fgfr2b results in duodenal or colonic atresia in mice (M. L. M. Jones, Sarila, et al, 2020; Kowalkowski et al, 2020; Teague et al, 2018). Examination of the colonic epithelium in Fgfr2b −/− mice showed increased apoptosis but normal levels of proliferation.…”

Section: Selected Topics In Genetics Development Regeneration and Dis...mentioning

confidence: 99%

New developments in the biology of fibroblast growth factors

Ornitz

Itoh

2022

WIREs Mechanisms of Disease

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The fibroblast growth factor (FGF) family is composed of 18 secreted signaling proteins consisting of canonical FGFs and endocrine FGFs that activate four receptor tyrosine kinases (FGFRs 1-4) and four intracellular proteins (intracellular FGFs or iFGFs) that primarily function to regulate the activity of voltagegated sodium channels and other molecules. The canonical FGFs, endocrine FGFs, and iFGFs have been reviewed extensively by us and others. In this review, we briefly summarize past reviews and then focus on new developments in the FGF field since our last review in 2015. Some of the highlights in the past 6 years include the use of optogenetic tools, viral vectors, and inducible transgenes to experimentally modulate FGF signaling, the clinical use of small molecule FGFR inhibitors, an expanded understanding of endocrine FGF signaling, functions for FGF signaling in stem cell pluripotency and differentiation, roles for FGF signaling in tissue homeostasis and regeneration, a continuing elaboration of mechanisms of FGF signaling in development, and an expanding appreciation of roles for FGF signaling in neuropsychiatric diseases.

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Section: Selected Topics In Genetics Development Regeneration and Dis...mentioning

confidence: 99%

New developments in the biology of fibroblast growth factors

Ornitz

Itoh

2022

WIREs Mechanisms of Disease

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“…In addition to embryological factors, the concept of genetic factors as an etiology of CGIO has been generally accepted [ 7 , 8 ]. The Prevention Network in the United States shows that gastrointestinal malformations are often correlated with trisomy 13, 18, 21 and Turner syndrome, in which the associations between duodenal stenosis/atresia and trisomy 21, esophageal stenosis/atresia and trisomy 18 are especially prominent [ 9 ].…”

Section: Introductionmentioning

confidence: 99%

Prenatal detection of chromosomal abnormalities and copy number variants in fetuses with congenital gastrointestinal obstruction

Meng

Jiang

2022

BMC Pregnancy Childbirth

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Background Congenital gastrointestinal obstruction (CGIO) mainly refers to the stenosis or atresia of any part from the esophagus to the anus and is one of the most common surgical causes in the neonatal period. The concept of genetic factors as an etiology of CGIO has been accepted, but investigations about CGIO have mainly focused on aneuploidy, and the focus has been on duodenal obstruction. The objective of this study was to evaluate the risk of chromosome aberrations (including numeric and structural aberrations) in different types of CGIO. A second objective was to assess the risk of abnormal CNVs detected by copy number variation sequencing (CNV-seq) in fetuses with different types of CGIO. Methods Data from pregnancies referred for invasive testing and CNV-seq due to sonographic diagnosis of fetal CGIO from 2015 to 2020 were obtained retrospectively from the computerized database. The rates of chromosome aberrations and abnormal CNV-seq findings for isolated CGIOs and complicated CGIOs and different types of CGIOs were calculated. Results Of the 240 fetuses with CGIO that underwent karyotyping, the detection rate of karyotype abnormalities in complicated CGIO was significantly higher than that of the isolated group (33.8% vs. 10.8%, p < 0.01). Ninety-three cases with normal karyotypes further underwent CNV-seq, and CNV-seq revealed an incremental diagnostic value of 9.7% over conventional karyotyping. In addition, the incremental diagnostic yield of CNV-seq analysis in complicated CGIOs (20%) was higher than that in isolated CGIOs (4.8%), and the highest prevalence of pathogenic CNVs/likely pathogenic CNVs was found in the duodenal stenosis/atresia group (17.5%), followed by the anorectal malformation group (15.4%). The 13q deletion, 10q26 deletion, 4q24 deletion, and 2p24 might be additional genetic etiologies of duodenal stenosis/atresia. Conclusions The risk of pathogenic chromosomal abnormalities and CNVs increased in the complicated CGIO group compared to that in the isolated CGIO group, especially when fetuses presented duodenal obstruction (DO) and anorectal malformation. CNV-seq was recommended to detect submicroscopic chromosomal aberrations for DO and anorectal malformation when the karyotype was normal. The relationship between genotypes and phenotypes needs to be explored in the future to facilitate prenatal diagnosis of fetal CGIO and yield new clues into their etiologies.

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“…[ 5 , 6 ] The most recent research suggested that local or tissue-specific mutation in Fgf10 and Fgfr2b might represent current science's best key to unlocking this mystery. [ 7 ] However, our patient did not have a chromosome check or cDNA sequencing analysis due to economic conditions. Approximately 50% of infants with DA will have polyhydramnios due to the inability to absorb amniotic fluid.…”

Section: Discussionmentioning

confidence: 99%

Management of duodenal atresia associated with situs inversus abdominus

et al. 2020

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Rationale: Duodenal atresia in association with situs inversus abdominus is extremely rare. Care should be taken when selecting appropriate surgical methods, and caution should be exercised during the surgery to avoid misdiagnosis and mistreatment. With prompt recognition of the condition, the surgical procedure should be performed in a timely manner to achieve positive results. Patient concerns: A newborn affected by situs inversus abdominus associated with duodenal atresia, midgut malrotation, and volvulus. Diagnosis: Congenital duodenal atresia with situs inversus abdominis. Interventions: Diamond-shaped duodenoduodenostomy with appendectomy was performed, with the release of Ladd band and correction of the malrotation. Outcomes: The baby boy is thriving well with no abdominal complaints at 4 years of surgical follow-up. Lessons: Although several theories are put forward to clarify this matter, the proper cause of duodenal atresia is not well defined. Clinical symptoms and examinations can assist diagnosis, the definitive cause should be ascertained by surgical approach. And the operating surgeon must be aware of the “mirror anatomy” to prevent unnecessary injuries. Additionally, long-term prognosis for duodenal atresia are very good, therefore, careful attention in postoperative management are important in such a case.

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The Role of Fibroblast Growth Factor 10 Signaling in Duodenal Atresia

Cited by 7 publications

References 56 publications

New developments in the biology of fibroblast growth factors

New developments in the biology of fibroblast growth factors

Prenatal detection of chromosomal abnormalities and copy number variants in fetuses with congenital gastrointestinal obstruction

Management of duodenal atresia associated with situs inversus abdominus

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