What question did this study set out to answer?

To identify causative genetic variants and characterize prenatal phenotypic variability in fetuses presenting with congenital megabladder and urinary tract malformations.

August 19, 2026BMC Pregnancy and ChildbirthOpen Access

MYOCD-associated congenital megabladder: novel variants and insights into prenatal phenotypic diversity

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Authors

GLGuoqiang LiShanghai Jiao Tong University XHXu HanShanghai Jiao Tong University YCYunyun CaoShanghai Jiao Tong University

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Implication

Genetic study uncovers novel MYOCD variants and diverse phenotypes in fetuses with urinary malformations, indicating a definitive association with congenital megabladder.

Key Points

To identify causative genetic variants and characterize prenatal phenotypic variability in fetuses presenting with congenital megabladder and urinary tract malformations.
Recruited four unrelated Chinese families presenting with fetal urinary tract malformations.
Performed prenatal sampling via amniocentesis or chorionic villus sampling, followed by cytogenetic karyotyping, chromosomal microarray analysis, and trio-based exome sequencing (trio-ES).
Evaluated the clinical validity of the MYOCD–megabladder gene-disease relationship using the ClinGen gene curation framework.
Identified four novel heterozygous loss-of-function variants in MYOCD: two nonsense variants [p.(Gln434Ter), p.(Gln307Ter)], one splice-site variant (c.1125 + 1G > A), and one frameshift variant [p.(Gly191ValfsTer42)].
Observed marked prenatal phenotypic heterogeneity, ranging from isolated bilateral hydronephrosis with postnatal survival to severe congenital megabladder leading to termination or intrauterine fetal demise.
Classified the clinical association between MYOCD and congenital megabladder as Definitive under ClinGen curation criteria.

Cite This Study

Li et al. (2026) studied this question.

synapsesocial.com/papers/6a8563fe03308d306e2d7747 https://doi.org/10.1186/s12884-026-09754-2

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Implication

Genetic study uncovers novel MYOCD variants and diverse phenotypes in fetuses with urinary malformations, indicating a definitive association with congenital megabladder.

MYOCD-associated congenital megabladder: novel variants and insights into prenatal phenotypic diversity

Discussion

Member takes

Implication

Key Points

Cite This Study

MYOCD-associated congenital megabladder: novel variants and insights into prenatal phenotypic diversity

Discussion

Member takes

Implication

Key Points

Cite This Study

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