Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Novel compound heterozygous DNAAF2 mutations cause primary ciliary dyskinesia in a Han Chinese family.

Journal of assisted reproduction and genetics - 1 Sept 2020

Sun Minghan, Zhang Yi, JiyunYang, Wang Yi, Tan Hao, Wang Hailian, Lei Tiantian, Li Xiaojie, Zhang Xiaojian, Xiong Wen, Dou Ke, Ma Yongxin

Abstract excerpt

PURPOSE: Primary ciliary dyskinesia (PCD), which commonly causes male infertility, is an inherited autosomal recessive disorder. This study aimed to investigate the clinical manifestations and screen mutations associated with the dynein axonemal assembly factor 2 (DNAAF2) gene in a Han Chinese family with PCD. METHODS: A three-generation family with PCD was recruited in this study. Eight family members underwent...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Asian People
Share to Axoneme

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Ciliary Motility Disorders

Share to Heterozygote

Share to High-Throughput Nucleotide Sequencing

Share to Infertility, Male

Share to Microtubule-Associated Proteins

Source

Open in PubMed Open full text

Identifiers

PMID: 32638265
DOI: 10.1007/s10815-020-01859-7
PMCID: PMC7492306

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Novel compound heterozygous DNAAF2 mutations cause primary ciliary dyskinesia in a Han Chinese family.PMID 32638265Read ↗

Clinical and genetic analysis of two patients with primary ciliary dyskinesia caused by a novel variant of DNAAF2.Semantic proximity Read ↗

Novel dynein axonemal assembly factor 1 mutations identified using whole‑exome sequencing in patients with primary ciliary dyskinesia.Semantic proximity Read ↗

Identification of a novel splice site mutation in the DNAAF4 gene of a Chinese patient with primary ciliary dyskinesia.Semantic proximity Read ↗

A novel homozygous mutation of CFAP300 identified in a Chinese patient with primary ciliary dyskinesia and infertilitySemantic proximity Read ↗

Clinical and genetic analysis of two patients with primary ciliary dyskinesia caused by a novel mutation of DNAAF2Semantic proximity Read ↗

A novel mutation in PCD-associated gene DNAAF3 causes male infertility due to asthenozoospermia.Semantic proximity Read ↗

A novel homozygous mutation in the DNAAF3 gene leads to severe asthenozoospermia and teratospermia.Semantic proximity Read ↗

Novel SPEF2 variants cause male infertility and likely primary ciliary dyskinesia.Semantic proximity Read ↗

Characterization of a DRC1 null variant associated to primary ciliary dyskinesia and female infertilitySemantic proximity Read ↗

Clinical and Genetic Study of a Pseudo-Dominant Primary Ciliary Dyskinesia Pedigree: The First DNAAF1-Associated Family Reported in Chinese Population.Semantic proximity Read ↗

DRC1 deficiency caused primary ciliary dyskinesia and MMAF in a Chinese patient.Semantic proximity Read ↗

Pathogenic variants identified by whole-exome sequencing in Chinese patients with primary ciliary dyskinesiaSemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.