Megacystis Microcolon Intestinal Hypoperistalsis Syndrome in Which a Different De Novo Actg2 Mutation was Detected: A Case Report

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dc.contributor.authorKorgali, Elif Unver
dc.contributor.authorYavuz, Amine
dc.contributor.authorSimsek, Cemile Ece Caglar
dc.contributor.authorGuney, Cengiz
dc.contributor.authorKurtulgan, Hande Kucuk
dc.contributor.authorBaser, Burak
dc.contributor.authorAtalar, Mehmet Haydar
dc.contributor.authorOzer, Hatice
dc.contributor.authorEgilmez, Hatice Reyhan
dc.date.accessioned2019-07-27T12:10:23Z
dc.date.accessioned2019-07-28T09:39:23Z
dc.date.available2019-07-27T12:10:23Z
dc.date.available2019-07-28T09:39:23Z
dc.date.issued2018
dc.department[Korgali, Elif Unver -- Yavuz, Amine -- Simsek, Cemile Ece Caglar] Cumhuriyet Univ, Fac Med, Dept Pediat, TR-58100 Sivas, Turkey -- [Guney, Cengiz] Cumhuriyet Univ, Dept Pediat Surg, Sivas, Turkey -- [Kurtulgan, Hande Kucuk -- Baser, Burak] Cumhuriyet Univ, Fac Med, Dept Med Genet, Sivas, Turkey -- [Atalar, Mehmet Haydar] Cumhuriyet Univ, Fac Med, Dept Radiol, Sivas, Turkey -- [Ozer, Hatice -- Egilmez, Hatice Reyhan] Cumhuriyet Univ, Fac Med, Dept Pathol, Sivas, Turkeyen_US
dc.description.abstractIntroduction: Megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS) is characterized by bladder distension without urinary tract obstruction, decreased or absent intestinal peristalsis and microcolon. Although the definitive cause remains unknown, changes in the ACTG2 gene are thought to be responsible for the intestinal and bladder hypoperistalsis. Case report. This female newborn with MMIHS had a c.532C > A /p.Arg178Ser heterozygous de novo mutation detected in the ACTG2 gene. Normal immature ganglion cells, normal calretinin punctate positivity, maintence of smooth muscle actin immunoreactivity, and decreased numbers of interstitial cells of Cajal(ICCs) were detected. Conclusion: This previously unreported c.532C >A /p.Arg178Ser heterozygous de novo mutation in the ACTG2 gene may lead to a severe form of MMIHS.en_US
dc.identifier.doi10.1080/15513815.2018.1445149en_US
dc.identifier.endpage116en_US
dc.identifier.issn1551-3815
dc.identifier.issn1551-3823
dc.identifier.issue2en_US
dc.identifier.pmid29608093en_US
dc.identifier.scopus2-s2.0-85044790847en_US
dc.identifier.scopusqualityQ3
dc.identifier.startpage109en_US
dc.identifier.urihttps://dx.doi.org/10.1080/15513815.2018.1445149
dc.identifier.urihttps://hdl.handle.net/20.500.12418/6521
dc.identifier.volume37en_US
dc.identifier.wosWOS:000432159100004en_US
dc.identifier.wosqualityQ4
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherTAYLOR & FRANCIS INCen_US
dc.relation.ispartofFETAL AND PEDIATRIC PATHOLOGYen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectACTG2 gene mutationen_US
dc.subjectmegacystis microcolon intestinal hypoperiltastis syndromeen_US
dc.subjectnewbornen_US
dc.titleMegacystis Microcolon Intestinal Hypoperistalsis Syndrome in Which a Different De Novo Actg2 Mutation was Detected: A Case Reporten_US
dc.typeArticleen_US

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