Occurrence of Esophageal Atresia With Tracheoesophageal Fistula in Siblings From Three-Generation Family Affected by Variable Expressivity MYCN Mutation: A Case Report

The MYCN oncogene encodes a transcription factor belonging to the MYC family. It is primarily expressed in normal developing embryos and is thought to be critical in brain and other neural development. Loss-of-function variants resulting in haploinsufficiency of MYCN, which encodes a protein with a...

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Autores principales:	Magdalena Klaniewska, Krystian Toczewski, Anna Rozensztrauch, Michal Bloch, Agata Dzielendziak, Piotr Gasperowicz, Ryszard Slezak, Rafał Ploski, Małgorzata Rydzanicz, Robert Smigiel, Dariusz Patkowski
Formato:	article
Lenguaje:	EN
Publicado:	Frontiers Media S.A. 2021
Materias:	esophageal atresia tracheoesophageal fistula MYCN Feingold syndrome familial occurrence Pediatrics RJ1-570
Acceso en línea:	https://doaj.org/article/5c17636ad65c4694a5c87f7f90539229
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spelling	oai:doaj.org-article:5c17636ad65c4694a5c87f7f905392292021-12-02T09:51:29ZOccurrence of Esophageal Atresia With Tracheoesophageal Fistula in Siblings From Three-Generation Family Affected by Variable Expressivity MYCN Mutation: A Case Report2296-236010.3389/fped.2021.783553https://doaj.org/article/5c17636ad65c4694a5c87f7f905392292021-12-01T00:00:00Zhttps://www.frontiersin.org/articles/10.3389/fped.2021.783553/fullhttps://doaj.org/toc/2296-2360The MYCN oncogene encodes a transcription factor belonging to the MYC family. It is primarily expressed in normal developing embryos and is thought to be critical in brain and other neural development. Loss-of-function variants resulting in haploinsufficiency of MYCN, which encodes a protein with a basic helix–loop–helix domain causes Feingold syndrome (OMIM 164280, ORPHA 391641). We present an occurrence of esophageal atresia (EA) with tracheoesophageal fistula in siblings from a three-generation family affected by variable expressivity of MYCN mutation p.(Ser90GlnfsTer176) as a diagnostic effect of searching the cause of familial esophageal atresia using NGS-based whole-exome sequencing (WES). All of our affected patients showed microcephaly and toe syndactyly, which were frequently reported in the literature. Just one patient exhibited clinodactyly. None of the patients exhibited brachymesophalangy or hypoplastic thumbs. The latest report noted that patients with EA and Feingold syndrome were also those with the more complex and severe phenotype. However, following a thorough review of the present literature, the same association was not found, which is also confirmed by the case we described. The variable phenotypic expression of the patients we described and the data from the literature guide a careful differential diagnosis of Feingold syndrome even in cases of poorly expressed and non-specific symptoms.Magdalena KlaniewskaKrystian ToczewskiAnna RozensztrauchMichal BlochAgata DzielendziakPiotr GasperowiczRyszard SlezakRafał PloskiMałgorzata RydzaniczRobert SmigielDariusz PatkowskiFrontiers Media S.A.articleesophageal atresiatracheoesophageal fistulaMYCNFeingold syndromefamilial occurrencePediatricsRJ1-570ENFrontiers in Pediatrics, Vol 9 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	esophageal atresia tracheoesophageal fistula MYCN Feingold syndrome familial occurrence Pediatrics RJ1-570
spellingShingle	esophageal atresia tracheoesophageal fistula MYCN Feingold syndrome familial occurrence Pediatrics RJ1-570 Magdalena Klaniewska Krystian Toczewski Anna Rozensztrauch Michal Bloch Agata Dzielendziak Piotr Gasperowicz Ryszard Slezak Rafał Ploski Małgorzata Rydzanicz Robert Smigiel Dariusz Patkowski Occurrence of Esophageal Atresia With Tracheoesophageal Fistula in Siblings From Three-Generation Family Affected by Variable Expressivity MYCN Mutation: A Case Report
description	The MYCN oncogene encodes a transcription factor belonging to the MYC family. It is primarily expressed in normal developing embryos and is thought to be critical in brain and other neural development. Loss-of-function variants resulting in haploinsufficiency of MYCN, which encodes a protein with a basic helix–loop–helix domain causes Feingold syndrome (OMIM 164280, ORPHA 391641). We present an occurrence of esophageal atresia (EA) with tracheoesophageal fistula in siblings from a three-generation family affected by variable expressivity of MYCN mutation p.(Ser90GlnfsTer176) as a diagnostic effect of searching the cause of familial esophageal atresia using NGS-based whole-exome sequencing (WES). All of our affected patients showed microcephaly and toe syndactyly, which were frequently reported in the literature. Just one patient exhibited clinodactyly. None of the patients exhibited brachymesophalangy or hypoplastic thumbs. The latest report noted that patients with EA and Feingold syndrome were also those with the more complex and severe phenotype. However, following a thorough review of the present literature, the same association was not found, which is also confirmed by the case we described. The variable phenotypic expression of the patients we described and the data from the literature guide a careful differential diagnosis of Feingold syndrome even in cases of poorly expressed and non-specific symptoms.
format	article
author	Magdalena Klaniewska Krystian Toczewski Anna Rozensztrauch Michal Bloch Agata Dzielendziak Piotr Gasperowicz Ryszard Slezak Rafał Ploski Małgorzata Rydzanicz Robert Smigiel Dariusz Patkowski
author_facet	Magdalena Klaniewska Krystian Toczewski Anna Rozensztrauch Michal Bloch Agata Dzielendziak Piotr Gasperowicz Ryszard Slezak Rafał Ploski Małgorzata Rydzanicz Robert Smigiel Dariusz Patkowski
author_sort	Magdalena Klaniewska
title	Occurrence of Esophageal Atresia With Tracheoesophageal Fistula in Siblings From Three-Generation Family Affected by Variable Expressivity MYCN Mutation: A Case Report
title_short	Occurrence of Esophageal Atresia With Tracheoesophageal Fistula in Siblings From Three-Generation Family Affected by Variable Expressivity MYCN Mutation: A Case Report
title_full	Occurrence of Esophageal Atresia With Tracheoesophageal Fistula in Siblings From Three-Generation Family Affected by Variable Expressivity MYCN Mutation: A Case Report
title_fullStr	Occurrence of Esophageal Atresia With Tracheoesophageal Fistula in Siblings From Three-Generation Family Affected by Variable Expressivity MYCN Mutation: A Case Report
title_full_unstemmed	Occurrence of Esophageal Atresia With Tracheoesophageal Fistula in Siblings From Three-Generation Family Affected by Variable Expressivity MYCN Mutation: A Case Report
title_sort	occurrence of esophageal atresia with tracheoesophageal fistula in siblings from three-generation family affected by variable expressivity mycn mutation: a case report
publisher	Frontiers Media S.A.
publishDate	2021
url	https://doaj.org/article/5c17636ad65c4694a5c87f7f90539229
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Occurrence of Esophageal Atresia With Tracheoesophageal Fistula in Siblings From Three-Generation Family Affected by Variable Expressivity MYCN Mutation: A Case Report

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