ArticleScientific reports2017
An effective combination of whole-exome sequencing and runs of homozygosity for the diagnosis of primary ciliary dyskinesia in consanguineous families.
Article in Scientific reports, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers, 1 of them a synthesis that pooled it.
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Who cites it
24 citing papers in PubMed, 1 synthesis or guideline pooled it, 38 citations in OpenAlex.
- Clinical and genetic spectrum of primary ciliary dyskinesia in Chinese patients: a systematic review.Orphanet journal of rare diseases · 2022Pooled it
- Clinical features and genetic spectrum of children with primary ciliary dyskinesia in central China: a referral center retrospective analysis.Frontiers in pharmacology · 2025Article
- Unraveling the Genetic Basis of Combined Deafness and Male Infertility Phenotypes through High-Throughput Sequencing in a Unique Cohort from South India.Advanced genetics (Hoboken, N.J.) · 2024Article
- Two Japanese Pediatric Patients With Primary Ciliary Dyskinesia Caused by Loss-of-Function Variants in the CCNO gene.Cureus · 2024Article
- Case Report: Primary ciliary dyskinesia due to CCNO mutations: a Chinese pediatric case series and literature review.Frontiers in pediatrics · 2024Article
- Identification of a novel splice site mutation in the DNAAF4 gene of a Chinese patient with primary ciliary dyskinesia.Asian journal of andrology · 2023Article
- Case Report: A Novel Homozygous Mutation of Cyclin O Gene Mutation in Primary Ciliary Dyskinesia with Short Stature.Pharmacogenomics and personalized medicine · 2023Article
- Article
- Molecular tools for the genomic assessment of oocyte's reproductive competence.Journal of assisted reproduction and genetics · 2022Review
- Case Report: Rare Dynein Axonemal Heavy Chain 9 Mutations in a Han-Chinese Patient With Kartagener Syndrome.Frontiers in medicine · 2022Article
- Case Report:Frontiers in genetics · 2022Article
- NovelFrontiers in genetics · 2022Article
- Identification of compound heterozygous DNAH11 variants in a Han-Chinese family with primary ciliary dyskinesia.Journal of cellular and molecular medicine · 2021Article
- Building a Chinese pan-genome of 486 individuals.Communications biology · 2021Article
- Bi-allelic BRWD1 variants cause male infertility with asthenoteratozoospermia and likely primary ciliary dyskinesia.Human genetics · 2021Article
- The M310T mutation in the GATA4 gene is a novel pathogenic target of the familial atrial septal defect.BMC cardiovascular disorders · 2021Article
- An exome-first approach to aid in the diagnosis of primary ciliary dyskinesia.Human genetics · 2020Article
- Cyclin-dependent kinases and rare developmental disorders.Orphanet journal of rare diseases · 2020Review
- Sperm defects in primary ciliary dyskinesia and related causes of male infertility.Cellular and molecular life sciences : CMLS · 2020Review
- Atypical cyclins: the extended family portrait.Cellular and molecular life sciences : CMLS · 2020Review
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Authors and funding
9 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Primary ciliary dyskinesia (PCD) is clinically characterized by neonatal respiratory distress, chronic sinusitis, bronchiectasis and infertility, and situs inversus in 50% of the patients. PCD is a result of mutations in genes encoding proteins involved in ciliary function, and is primarily inherited in an autosomal recessive fashion. Diagnosis of PCD is often a challenging task due to its high clinical and genetic heterogeneities. In the present study, we attempted to use whole-exome sequencing (WES) combined with runs of homozygosity (ROH) approaches to identify the genetic defects in four Chinese consanguineous families with clinical PCD. We successfully identified three recently acknowledged PCD genes: DYX1C1, CCNO and ARMC4, and one well-characterized PCD gene, DNAI1. Our study provides compelling evidence that WES in combination with ROH analysis is an efficient diagnostic tool for identifying genetic causes of PCD in consanguineous families. Furthermore, our work expands the genetic mutation spectrum in PCD, and provides the additional tools to better serve the counseling of the families with PCD.
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