Literature DB >> 33452233

A pediatric case of productive cough caused by novel variants in DNAH9.

Kazuhiko Takeuchi1, Yifei Xu2, Satoru Ogawa3, Makoto Ikejiri4, Kaname Nakatani5, Shimpei Gotoh6, Satoko Usui7, Sawako Masuda7, Mizuho Nagao8, Takao Fujisawa8.   

Abstract

We report the first Japanese case of primary ciliary dyskinesia caused by DNAH9 variations. The patient, a 5-year-old girl, had repeated episodes of productive cough after contracting the common cold at the age of 1 year and 6 months. She did not have a situs abnormality or congenital heart defect. We identified two novel DNAH9 variants, NM_001372.3: c. [1298C>G];[5547_5550delTGAC], (p.[Ser433Cys];[Asp1850fs]).

Entities:  

Year:  2021        PMID： 33452233      PMCID： PMC7810879          DOI： 10.1038/s41439-020-00134-6

Source DB:  PubMed          Journal:  Hum Genome Var        ISSN： 2054-345X


  8 in total

1.  Interaction between the DNAH9 gene and early smoke exposure in bronchial hyperresponsiveness.

Authors:  Marie-Hélène Dizier; Rachel Nadif; Patricia Margaritte-Jeannin; Sheila J Barton; Chloé Sarnowski; Valérie Gagné-Ouellet; Myriam Brossard; Nolwenn Lavielle; Jocelyne Just; Mark Lathrop; John W Holloway; Catherine Laprise; Emmanuelle Bouzigon; Florence Demenais
Journal:  Eur Respir J       Date:  2016-01-21       Impact factor: 16.671

2.  Standardizing nasal nitric oxide measurement as a test for primary ciliary dyskinesia.

Authors:  Margaret W Leigh; Milan J Hazucha; Kunal K Chawla; Brock R Baker; Adam J Shapiro; David E Brown; Lisa M Lavange; Bethany J Horton; Bahjat Qaqish; Johnny L Carson; Stephanie D Davis; Sharon D Dell; Thomas W Ferkol; Jeffrey J Atkinson; Kenneth N Olivier; Scott D Sagel; Margaret Rosenfeld; Carlos Milla; Hye-Seung Lee; Jeffrey Krischer; Maimoona A Zariwala; Michael R Knowles
Journal:  Ann Am Thorac Soc       Date:  2013-12

3.  Mutations in Outer Dynein Arm Heavy Chain DNAH9 Cause Motile Cilia Defects and Situs Inversus.

Authors:  Mahmoud R Fassad; Amelia Shoemark; Marie Legendre; Robert A Hirst; France Koll; Pierrick le Borgne; Bruno Louis; Farheen Daudvohra; Mitali P Patel; Lucie Thomas; Mellisa Dixon; Thomas Burgoyne; Joseph Hayes; Andrew G Nicholson; Thomas Cullup; Lucy Jenkins; Siobhán B Carr; Paul Aurora; Michel Lemullois; Anne Aubusson-Fleury; Jean-François Papon; Christopher O'Callaghan; Serge Amselem; Claire Hogg; Estelle Escudier; Anne-Marie Tassin; Hannah M Mitchison
Journal:  Am J Hum Genet       Date:  2018-11-21       Impact factor: 11.025

4.  [A case of primary ciliary dyskinesia who had been treated as asthma].

Authors:  Koa Hosoki; Takao Fujisawa; Sawako Masuda; Satoko Usui; Hiroaki Ito; Mizuho Nagao; Akihiko Terada; Kousei Iguchi; Satoru Ogawa; Kaname Nakatani; Kazuhiko Takeuchi
Journal:  Arerugi       Date:  2010-07

5.  PICADAR: a diagnostic predictive tool for primary ciliary dyskinesia.

Authors:  Laura Behan; Borislav D Dimitrov; Claudia E Kuehni; Claire Hogg; Mary Carroll; Hazel J Evans; Myrofora Goutaki; Amanda Harris; Samantha Packham; Woolf T Walker; Jane S Lucas
Journal:  Eur Respir J       Date:  2016-02-25       Impact factor: 16.671

6.  Whole-exome sequencing identification of novel DNAH5 mutations in a young patient with primary ciliary dyskinesia.

Authors:  Gen Kano; Hisashi Tsujii; Kazuhiko Takeuchi; Kaname Nakatani; Makoto Ikejiri; Satoru Ogawa; Hisami Kubo; Mizuho Nagao; Takao Fujisawa
Journal:  Mol Med Rep       Date:  2016-10-21       Impact factor: 2.952

7.  Recessive DNAH9 Loss-of-Function Mutations Cause Laterality Defects and Subtle Respiratory Ciliary-Beating Defects.

Authors:  Niki T Loges; Dinu Antony; Ales Maver; Matthew A Deardorff; Elif Yýlmaz Güleç; Alper Gezdirici; Tabea Nöthe-Menchen; Inga M Höben; Lena Jelten; Diana Frank; Claudius Werner; Johannes Tebbe; Kaman Wu; Elizabeth Goldmuntz; Goran Čuturilo; Bryan Krock; Alyssa Ritter; Rim Hjeij; Zeineb Bakey; Petra Pennekamp; Bernd Dworniczak; Han Brunner; Borut Peterlin; Cansaran Tanidir; Heike Olbrich; Heymut Omran; Miriam Schmidts
Journal:  Am J Hum Genet       Date:  2018-11-21       Impact factor: 11.025

8.  Copy number variation in DRC1 is the major cause of primary ciliary dyskinesia in the Japanese population.

Authors:  Kazuhiko Takeuchi; Yifei Xu; Masako Kitano; Kazuki Chiyonobu; Miki Abo; Koji Ikegami; Satoru Ogawa; Makoto Ikejiri; Mitsuko Kondo; Shimpei Gotoh; Mizuho Nagao; Takao Fujisawa; Kaname Nakatani
Journal:  Mol Genet Genomic Med       Date:  2020-01-20       Impact factor: 2.183
  8 in total
  1 in total

1.  Dnah9 mutant mice and organoid models recapitulate the clinical features of patients with PCD and provide an excellent platform for drug screening.

Authors:  Rui Zheng; Wenhao Yang; Yuting Wen; Liang Xie; Fang Shi; Danli Lu; Jiaxin Luo; Yan Li; Rui Zhang; Ting Chen; Lina Chen; Wenming Xu; Hanmin Liu
Journal:  Cell Death Dis       Date:  2022-06-21       Impact factor: 9.685
  1 in total

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