Corrigendum: Compound Heterozygous Variants in the Coiled-Coil Domain Containing 40 Gene in a Chinese Family With Primary Ciliary Dyskinesia Cause Extreme Phenotypic Diversity in Cilia Ultrastructure

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 variants has not been reported.Methods: Whole-exome and Sanger sequencing were used to identify the disease-related gene of the patient with PCD in a consanguineous Chinese family. Domain analysis was applied to predict the impact of the variant on ODAD3 protein.Results: The 35 year-old female patient exhibited chronic sinusitis, diffuse bronchiectasis, dextrocardia and infertility. We identified a novel homozygous variant in ODAD3, c.1166_1169dupAGAC, p.(Leu391Aspfs*105) in the PCD patient by exome sequencing and Sanger sequencing. This frameshift variant was predicted to be disease causing by bioinformatics analysis and was also not presented in the current authorized large genetic databases.Conclusions: Our study enriches the genetic spectrum and clinical phenotypes of ODAD3 variants in PCD and provide more evidence for future genetic counseling and gene-targeted therapy for this disease.

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Identification of a frame shift mutation in the CCDC151 gene in a Han-Chinese family with Kartagener syndrome

Bioscience Reports ◽

10.1042/bsr20192510 ◽

2020 ◽

Vol 40 (6) ◽

Author(s):

Sheng Deng ◽

Shan Wu ◽

Hong Xia ◽

Wei Xiong ◽

Xiong Deng ◽

...

Keyword(s):

Autosomal Recessive ◽

Coiled Coil ◽

Han Chinese ◽

Chinese Family ◽

Kartagener Syndrome ◽

Coiled Coil Domain ◽

Frame Shift ◽

Frame Shift Mutation ◽

Recessive Form ◽

Ciliary Dyskinesia

Abstract Kartagener syndrome (KS), a subtype of primary ciliary dyskinesia (PCD), is characterized by bronchiectasis, chronic sinusitis, male infertility and situs inversus. KS is a genetically heterogeneous disease that is inherited in an autosomal recessive form; however, X-linked inheritance has also been reported. As of this writing [late 2020], at least 34 loci, most of which have known genes, have been reported in the literature as associating with KS. In the present study, we identified a frame shift mutation, c.167delG (p.G56Dfs*26), in the coiled-coil domain containing 151 gene (CCDC151) responsible for KS in a Han-Chinese family. To our knowledge, this is the first report of a CCDC151 c.167delG mutation in the KS patient. These findings may expand the CCDC151 mutation spectrum of KS, and contribute to future genetic counseling and gene-targeted therapy for this disease.

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Severe disease due to CCDC40 gene variants and the perils of late diagnosis in primary ciliary dyskinesia

BMJ Case Reports ◽

10.1136/bcr-2018-224964 ◽

2018 ◽

pp. bcr-2018-224964 ◽

Cited By ~ 1

Author(s):

Hasan Ghandourah ◽

Sharon D Dell

Keyword(s):

Respiratory Distress ◽

Primary Ciliary Dyskinesia ◽

Neonatal Period ◽

Severe Disease ◽

Coiled Coil ◽

Failure To Thrive ◽

Gene Variants ◽

Severe Respiratory Distress ◽

Coiled Coil Domain ◽

Ciliary Dyskinesia

Primary ciliary dyskinesia (PCD) can manifest in the neonatal period with severe respiratory distress. We describe a child with PCD who presented at term with severe neonatal respiratory distress, persistent right upper lobe collapse and failure to thrive who underwent lobectomy prior to the diagnosis of PCD at the age of 3 years. This case report illustrates the severe spectrum of lung disease associated with coiled-coil domain containing protein 40 (CCDC40) gene variants in patients with PCD.

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Novel compound heterozygous EYS variants may be associated with arRP in a large Chinese pedigree

Bioscience Reports ◽

10.1042/bsr20193443 ◽

2020 ◽

Vol 40 (6) ◽

Cited By ~ 1

Author(s):

Chunli Wei ◽

Ting Xiao ◽

Jingliang Cheng ◽

Jiewen Fu ◽

Qi Zhou ◽

...

Keyword(s):

Novel Mutation ◽

Gene Mutations ◽

Chinese Family ◽

Compound Heterozygous ◽

Missense Mutations ◽

The Novel ◽

Pathogenic Variants ◽

Pathogenic Genes ◽

Compound Heterozygous Variants ◽

Normal Controls

Abstract As a genetically heterogeneous ocular dystrophy, gene mutations with autosomal recessive retinitis pigmentosa (arRP) in patients have not been well described. We aimed to detect the disease-causing genes and variants in a Chinese arRP family. In the present study, a large Chinese pedigree consisting of 31 members including a proband and another two patients was recruited; clinical examinations were conducted; next-generation sequencing using a gene panel was used for identifying pathogenic genes, and Sanger sequencing was performed for verification of mutations. Novel compound heterozygous variants c.G2504A (p.C835Y) and c.G6557A (p.G2186E) for the EYS gene were identified, which co-segregated with the clinical RP phenotypes. Sequencing of 100 ethnically matched normal controls didn’t found these mutations in EYS. Therefore, our study identified pathogenic variants in EYS that may cause arRP in this Chinese family. This is the first study to reveal the novel mutation in the EYS gene (c.G2504A, p.C835Y), extending its mutation spectrum. Thus, the EYS c.G2504A (p.C835Y) and c.G6557A (p.G2186E) variants may be the disease-causing missense mutations for RP in this large arRP family. These findings should be helpful for molecular diagnosis, genetic counseling and clinical management of arRP disease.

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