Clinical and Genetic Spectrum of Children With Primary Ciliary Dyskinesia in China

Guan, Yu; Yang, Hongli; Yao, Xingfeng; Xu, Hui; Liu, Hui; Tang, Xiaolei; Hao, Chanjuan; Zhang, Xiang; Zhao, Shunying; Ge, Wentong; Ni, Xin

doi:10.1016/j.chest.2021.02.006

Cited by 48 publications

(68 citation statements)

References 39 publications

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“…They showed moderate to severe obstructive airflow on PFTs. Interestingly, a higher incidence of PIBO was found in patients with DNAH1 variant alleles [5]. These findings are comparable with our case.…”

Section: Discussionsupporting

confidence: 92%

“…This fact highlights the importance of a better understanding of the spectrum of clinical manifestations of PCD in children. Recently, Guan et al described seven pediatric patients from China with PIBO as an initial presentation of PCD [5]. In this study, patients were found to have findings of mosaic attenuation patterns, bronchiectasis, atelectasis, and air trapping on HRCT of the lungs.…”

Section: Discussionmentioning

confidence: 57%

“…Diagnosis can be established by a combination of patient history and physical examination findings along with radiographic imaging [1,2]. A possible rare association between PIBO and primary ciliary dyskinesia (PCD) has been described in certain genetic PCD variants like DNAH1 [5]. However, the relationship between specific PCD genetic variants and a predisposition to developing BO in patients with PCD is still not established.…”

Section: Introductionmentioning

confidence: 99%

“…However, it remains unclear as to what extent colonization with Pseudomonas aeruginosa affects the lung structure and function in patients with PCD in the long term [8]. To date, only seven patients with PIBO as the initial presentation of PCD have been described in the medical literature [5], and only three of them had DNAH1 genetic variants. In this report, we describe an atypical presentation of PCD with a single heterozygous pathogenic DNAH1 genetic variant in a pediatric Puerto Rican patient with mosaic attenuation pattern and mild bronchiectasis on HRCT of the lungs.…”

Section: Introductionmentioning

confidence: 99%

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Bronchiolitis Obliterans and Primary Ciliary Dyskinesia: What Is the Link?

Caballero-Colón

Guan

Yang

et al. 2021

Cureus

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Section: Discussionsupporting

confidence: 92%

Section: Discussionmentioning

confidence: 57%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Bronchiolitis Obliterans and Primary Ciliary Dyskinesia: What Is the Link?

Caballero-Colón

Guan

Yang

et al. 2021

Cureus

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“…We previously ruled out a heterozygous variant in TCOF1 (MIM 606847; 5q32-q33) due to lack of clinically diagnosed craniofacial hallmarks of AD Treacher-Collins syndrome (MIM 154500), but upon review, we cannot rule out that the TCOF1 variant also contributes to hearing loss and temporal bone anomalies, as was previously described (Table S1) [70]. Lastly a heterozygous variant in DNAH14 (MIM 603341; 1q42.12), a candidate gene for primary ciliary dyskinesia and lung function in cystic fibrosis (Table S1) [71,72], may play a role in ID6 s susceptibility to airway infections.…”

Section: Resultsmentioning

confidence: 86%

Identification of Novel Candidate Genes and Variants for Hearing Loss and Temporal Bone Anomalies

Santos‐Cortez

Yarza

Bootpetch

et al. 2021

Genes

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Background: Hearing loss remains an important global health problem that is potentially addressed through early identification of a genetic etiology, which helps to predict outcomes of hearing rehabilitation such as cochlear implantation and also to mitigate the long-term effects of comorbidities. The identification of variants for hearing loss and detailed descriptions of clinical phenotypes in patients from various populations are needed to improve the utility of clinical genetic screening for hearing loss. Methods: Clinical and exome data from 15 children with hearing loss were reviewed. Standard tools for annotating variants were used and rare, putatively deleterious variants were selected from the exome data. Results: In 15 children, 21 rare damaging variants in 17 genes were identified, including: 14 known hearing loss or neurodevelopmental genes, 11 of which had novel variants; and three candidate genes IST1, CBLN3 and GDPD5, two of which were identified in children with both hearing loss and enlarged vestibular aqueducts. Patients with variants within IST1 and MYO18B had poorer outcomes after cochlear implantation. Conclusion: Our findings highlight the importance of identifying novel variants and genes in ethnic groups that are understudied for hearing loss.

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Pathogenic variants identified using whole‐exome sequencing in Chinese patients with primary ciliary dyskinesia

Qing-yun

Chen

et al. 2022

American J of Med Genetics Pt A

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BackgroundPrimary ciliary dyskinesia (PCD) is an autosomal recessive disorder. The genetic factors contributing to PCD pathogenesis remain elusive for approximately 20-35% of patients with complex and abnormal clinical phenotypes. Our study aimed to identify causative variants of sporadic PCD genes using whole-exome sequencing (WES). ResultAll patients were diagnosed with PCD based on clinical phenotype or transmission electron microscopy (TEM) images of cilia. WES and bioinformatic analysis were then conducted for patients with PCD. Identi ed candidate variants were validated by Sanger sequencing. Pathogenicity of candidate variants was then evaluated using in silico software and the American College of Medical Genetics and Genomics (ACMG) database. In total, 15 rare variants were identi ed in ve patients with PCD. Five new variants of CCDC40, DNAH1, DNAAF3, and DNAI1 were considered causative variants and included one splicing and three homozygous variants. ConclusionOur study demonstrated that patients with PCD carry rare causative variants of multiple genes. Our ndings indicated that not only known causative genes but also other functional genes should be considered for heterogeneous genetic disorders.

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Clinical and Genetic Spectrum of Children With Primary Ciliary Dyskinesia in China

Cited by 48 publications

References 39 publications

Bronchiolitis Obliterans and Primary Ciliary Dyskinesia: What Is the Link?

Bronchiolitis Obliterans and Primary Ciliary Dyskinesia: What Is the Link?

Identification of Novel Candidate Genes and Variants for Hearing Loss and Temporal Bone Anomalies

Pathogenic variants identified using whole‐exome sequencing in Chinese patients with primary ciliary dyskinesia

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