Heterozygous truncating variants in BICC1 are a novel cause of autosomal-dominant tubulointerstitial kidney disease

PKHD1 biallelic defects caused Severe Hepatic Fibrosis and polycystic kidney: Identification of a novel pathogenic variant in a Chinese family.

Background Autosomal recessive polycystic kidney disease (ARPKD) is a rare hereditary ciliopathy, clinically characterized by fibrocystic changes in the kidneys and liver. The disease is manifested by hepatic fibrosis and significantly enlarged, echogenic kidneys with fusiform dilation of the collecting ducts. ARPKD is...

A Novel Mutation of the FBN1 Gene in a Chinese Family With Marfan Syndrome and Unanticipated Discoveries of Family Members

This study expands the mutational spectrum of FBN1, establishes functional evidence for the pathogenicity of the LDLR variant, and represents the first report of a pediatric individual carrying three coexisting pathogenic variants for rare diseases.

Probable autosomal dominant Alport syndrome associated with a novel COL4A4 variant: A case report

Alport syndrome is a hereditary glomerular basement membrane disorder caused by pathogenic variants in COL4A3, COL4A4, or COL4A5. Autosomal dominant forms are increasingly recognized but remain underdiagnosed due to their mild and heterogeneous presentation. We report the case of a 38-year-old woman referred for persis...

Three FBN1 pathogenic variants in Chinese patients with Marfan syndrome: Two novel variants including a splicing-altering deletion with functional verification.

In this study, pathogenic FBN1 variants were identified in three patients, thereby confirming the clinical diagnosis of MFS and contributing two novel variants to the FBN1 variant repository, and provide a comparative assessment of genotype-phenotype correlations.

Rare forms of autosomal dominant tubulointerstitial kidney disease in children: a retrospective case series from Oman.

The Importance of Familial Co-segregation in the Classification of a Novel PKD1 Variant Associated With Autosomal Dominant Polycystic Kidney Disease.

The utility of segregation studies for classifying genetic variants, as applied to a family with severe ADPKD and a novel PKD1 missense variant, is demonstrated, demonstrating the value of segregation studies and accurate clinical phenotyping in genetic variant annotation.