Fetal megacystis-microcolon: Genetic mutational spectrum and identification of PDCL3 as a novel candidate gene.

doi:10.1111/cge.13801

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Article

Fetal megacystis-microcolon: Genetic mutational spectrum and identification of PDCL3 as a novel candidate gene.

Clinical genetics - 1 Sept 2020

Billon Clarisse, Molin Arnaud, Poirsier Céline, Clemenson Alix, Dauge Coralie, Grelet Maude, Sigaudy Sabine, Patrier Sophie, Goldenberg Alice, Layet Valérie, Tantau Julia, Fleury Clémence, Liard Agnès, Diguet Alain, Fritih Radia, Verspyck Eric, Rendu John, Boutaud Lucile, Tessier Aude, Thomas Sophie, Razavi Ferechté, Achaiaa Amale, Elkhartoufi Nadia, Hakkakian Leila, Magnin Eglantine, Bôle-Feysot Christine, Masson Cécile, Ville Yves, Roth Philippe, Prieur Fabienne, Bessieres Bettina, Bonniere Maryse, Attie-Bitach Tania

Abstract excerpt

Megacystis-microcolon-intestinal-hypoperistalsis syndrome (MMIHS) is a severe congenital visceral myopathy characterized by an abdominal distension due to a large non-obstructed urinary bladder, a microcolon and intestinal hypo- or aperistalsis. Most of the patients described to date carry a sporadic heterozygous variant in ACTG2. More recently, recessive forms have been reported and mutations in MYH11, LMOD1,...

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PMID: 32621347
DOI: 10.1111/cge.13801

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