English (United Kingdom)

https://curated-unify.zendy.io/wp-json/zendy-region/v1/featured_content/oa?rat=en

https://curated-unify.zendy.io/wp-json/zendy-region/v1/highlighted_journal/

Global: Zendy Plus annual

Presents the access of premium content as premium feature

Premium Content

Presents the keyphrase highlighting as premium feature

Keyphrase Highlighting

Presents the summarisation as premium feature

Summarisation

Insights

Presents the pdf analysis as premium feature

PDF Analysis

Presents the zaia usage as premium feature

ZAIA

Global: Zendy Tools annual

Global: Zendy Free Plan

Global: Zendy Tools monthly

Global: Zendy Plus monthly

the implication of DNAH1 in Chinese MMAF patients. We, thus, would like to encourage the authors to sequence the remaining 75 exons of DNAH1. Using next generation sequencing, we have identified five new pathogenic mutations in DNAH1 in a small cohort of patients with MMAF phenotype, confirming the high prevalence of DNAH1 gene alterations in this phenotype and the fact that mutations can be expected in any of the 79 DNAH1 exons (unpublished data). Moreover, and as proposed by the authors, others genes and, in particular, those involved in the intra‐flagellar transport (IFT) or intramanchette transport may be linked to MMAF phenotype.1 Beyond the role of DNAH1 in the motor function and the structure of the axoneme, its unexpected strong cytoplasmic expression suggests a possible involvement of this inner arm dynein to the flagellum assembly throughout the IFT.2 We still believe that the molecular diagnosis of MMAF patients should first focus on DNAH1 and then, as proposed by the authors, on genes involved in intra‐flagellar transport (IFT) or intramanchette transport. As DNAH1 alone is encoded by 79 exons, we believe that the best diagnosis strategy for MMAF diagnosis is the realization of exome sequencing. This will eventually permit to identify all the genes involved in this heterogeneous phenotype and perhaps confirm the above‐mentioned hypothesis.

Commentary on "morphological characteristics and initial genetic study of multiple morphological anomalies of the flagella in China"