Back to search

Article

Trio-based whole-exome sequencing and Minigene assay identify a novel MYH11 splice site variant (c.2997+5G>C) in recurrent fetal megacystis

2026-01-28

Abstract excerpt

<title>Abstract</title> <p> Background Megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS) is a severe visceral myopathy attributed to defects in smooth muscle contraction. Although pathogenic variants in genes such as <italic>ACTG2</italic> , <italic>LMOD1</italic> , <italic>MYLK</italic> , <italic>MYH9</italic> , and <italic>MYH11</italic> have been associated with MMIHS, the complete...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work
563e8516-22ca-5811-aeca-209e761e930f
DOI
10.21203/rs.3.rs-8478795/v1
Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest
Interactive article relationship graphSelect a related publication card to move it into the centre and load its closest explainable connections. Solid lines are source-backed structured connections. Dashed lines are semantic discovery signals and are not scientific evidence.
Trio-based whole-exome sequencing and Minigene assay identify a novel MYH11 splice site variant (c.2997+5G&gt;C) in recurrent fetal megacystisDOI 10.21203/rs.3.rs-8478795/v1
Compound heterozygous variants in MYH11 underlie autosomal recessive megacystis-microcolon-intestinal hypoperistalsis syndrome in a Chinese familySemantic proximity
Exploring the complexities of megacystis-microcolon-intestinal hypoperistalsis syndrome: insights from genetic studies.Semantic proximity
Homozygous deletion in MYL9 expands the molecular basis of megacystis-microcolon-intestinal hypoperistalsis syndrome.Semantic proximity
16p13.11 microdeletion uncovers loss‐of‐function of a MYH11 missense variant in a patient with megacystis‐microcolon‐intestinal‐hypoperistalsis syndromeSemantic proximity
Visceral myopathy: Clinical and molecular survey of a cohort of seven new patients and state of the art of overlapping phenotypes.Semantic proximity
A homozygous loss-of-function variant in MYH11 in a case with megacystis-microcolon-intestinal hypoperistalsis syndrome.Semantic proximity
Fetal megacystis-microcolon: Genetic mutational spectrum and identification of PDCL3 as a novel candidate gene.Semantic proximity
Loss-of-Function Variants in MYLK Cause Recessive Megacystis Microcolon Intestinal Hypoperistalsis Syndrome.Semantic proximity
Genotype-phenotype correlation and management of Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome: a descriptive cohort study.Semantic proximity
Whole exome sequencing discloses a pathogenic MTM1 gene mutation in a continuous polyhydramnios family in China: Case report and literature review.Semantic proximity
MYOCD-associated congenital megabladder: novel variants and insights into prenatal phenotypic diversitySemantic proximity
Use of whole genome sequencing to determine the genetic basis of visceral myopathies including Prune Belly syndromeSemantic proximity
Select a neighboring publication to make it the new centre.