Case Report: Identification of a Novel ODAD3 Variant in a Patient With Primary Ciliary Dyskinesia
Background:ODAD3 encodes a protein of 595 amino acids and contain three highly conserved coiled-coil domains, which is essential for cilia axoneme dynein arm assembly and docking. Primary ciliary dyskinesia (PCD) of ODAD3 deficiency are rarely reported. Female infertility in PCD related to ODAD3 var...
Main Authors: | Rongchun Wang, Danhui Yang, Ting Guo, Cheng Lei, Xu Chen, Xi Kang, Jie Qing, Hong Luo |
---|---|
Format: | Article |
Language: | English |
Published: |
Frontiers Media S.A.
2021-02-01
|
Series: | Frontiers in Genetics |
Subjects: | |
Online Access: | https://www.frontiersin.org/articles/10.3389/fgene.2021.652381/full |
Similar Items
-
Expression of a Truncated Form of <i>ODAD1</i> Associated with an Unusually Mild Primary Ciliary Dyskinesia Phenotype
by: Lawrence E. Ostrowski, et al.
Published: (2022-02-01) -
ODAD1 variants resulting from splice-site mutations retain partial function and cause primary ciliary dyskinesia with outer dynein arm defects
by: Nannan Zhou, et al.
Published: (2023-10-01) -
Case Report: DNAAF4 Variants Cause Primary Ciliary Dyskinesia and Infertility in Two Han Chinese Families
by: Ting Guo, et al.
Published: (2022-07-01) -
Novel RSPH4A Variants Associated With Primary Ciliary Dyskinesia–Related Infertility in Three Chinese Families
by: Lin Wang, et al.
Published: (2022-06-01) -
Case Report: Whole-Exome Sequencing-Based Copy Number Variation Analysis Identified a Novel DRC1 Homozygous Exon Deletion in a Patient With Primary Ciliary Dyskinesia
by: Ying Liu, et al.
Published: (2022-07-01)