ArticleJournal of human genetics2016
Expanding the mutation spectrum in 130 probands with ARPKD: identification of 62 novel PKHD1 mutations by sanger sequencing and MLPA analysis.
Article in Journal of human genetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers.
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Who cites it
24 citing papers in PubMed, 42 citations in OpenAlex.
- Hepatic manifestations of ciliopathies: genetic causes and clinical update.European journal of pediatrics · 2026Review
- Disruption of the human cystin-1 myristoyl-electrostatic switch causes polycystic kidney disease that phenocopies autosomal recessive polycystic kidney disease.Kidney international · 2026Article
- Novel compound heterozygousFrontiers in medicine · 2026Article
- Moroccan genome project: genomic insight into a North African population.Communications biology · 2025Article
- A Deep Intronic PKHD1 Variant Identified by SpliceAI in a Deceased Neonate With Autosomal Recessive Polycystic Kidney Disease.American journal of kidney diseases : the official journal of the National Kidney Foundation · 2024Article
- Distribution and classifications ofTurkish journal of medical sciences · 2024Article
- Pathogenic relationship between phenotypes of ARPKD and novel compound heterozygous mutations ofFrontiers in genetics · 2024Article
- Prenatal diagnosis in the fetal hyperechogenic kidneys: assessment using chromosomal microarray analysis and exome sequencing.Human genetics · 2023Review
- A Potential Therapy Using Antisense Oligonucleotides to Treat Autosomal Recessive Polycystic Kidney Disease.Journal of clinical medicine · 2023Article
- Predominant Liver Cystic Disease in a New Heterozygotic PKHD1 Variant: A Case Report.The American journal of case reports · 2023Article
- Rare variants in PKHD1 associated with Caroli syndrome: Two case reports.Molecular genetics & genomic medicine · 2022Article
- Probability of high-risk genetic matching with oocyte and semen donors: complete gene analysis or genotyping test?Journal of assisted reproduction and genetics · 2022Observational
- Cystin genetic variants cause autosomal recessive polycystic kidney disease associated with altered Myc expression.Scientific reports · 2021Article
- Neonatal polycystic kidney disease: a novel variant.BMJ case reports · 2021Article
- Comprehensive strategy improves the genetic diagnosis of different polycystic kidney diseases.Journal of cellular and molecular medicine · 2021Article
- Autosomal Recessive Polycystic Kidney Disease-The Clinical Aspects and Diagnostic Challenges.Journal of pediatric genetics · 2021Review
- Insights Into the Molecular Mechanisms of Polycystic Kidney Diseases.Frontiers in physiology · 2021Review
- Challenging Disease Ontology by Instances of AtypicalFrontiers in genetics · 2021Article
- Autosomal recessive polycystic kidney disease: case report of a newborn with rare PKHD1 mutation, rapid renal enlargement and early fatal outcome.Italian journal of pediatrics · 2020Article
- Use of patient derived urine renal epithelial cells to confirm pathogenicity of PKHD1 alleles.BMC nephrology · 2020Article
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Authors and funding
8 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Autosomal recessive polycystic kidney disease (ARPKD) is a rare severe genetic disorder arising in the perinatal period, although a late-onset presentation of the disease has been described. Pulmonary hypoplasia is the major cause of morbidity and mortality in the newborn period. ARPKD is caused by mutations in the PKHD1 (polycystic kidney and hepatic disease 1) gene that is among the largest human genes. To achieve a molecular diagnosis of the disease, a large series of Italian affected subjects were recruited. Exhaustive mutation analysis of PKHD1 gene was carried out by Sanger sequencing and multiple ligation probe amplification (MLPA) technique in 110 individuals. A total of 173 mutations resulting in a detection rate of 78.6% were identified. Additional 20 unrelated patients, in whom it was not possible to analyze the whole coding sequence, have been included in this study. Taking into account the total number (n=130) of this cohort of patients, 107 different types of mutations have been detected in 193 mutated alleles. Out of 107 mutations, 62 were novel: 11 nonsense, 6 frameshift, 7 splice site mutations, 2 in-frame deletions and 2 multiexon deletion detected by MLPA. Thirty-four were missense variants. In conclusion, our report expands the spectrum of PKHD1 mutations and confirms the heterogeneity of this disorder. The population under study represents the largest Italian ARPKD cohort reported to date. The estimated costs and the time invested for molecular screening of genes with large size and allelic heterogeneity such as PKHD1 demand the use of next-generation sequencing (NGS) technologies for a faster and cheaper screening of the affected subjects.
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