Primary ciliary dyskinesia-kartagener syndrome in a family with a novel DNAH5 gene mutation and variable phenotypes
Joint Authors
Marafi, Makia J.
al-Sulayman, Ibrahim S.
Rida, Abd Allah M.
Alshati, Abd al-Rahman M.
Source
The Egyptian Journal of Medical Human Genetics
Issue
Vol. 16, Issue 1 (31 Mar. 2015), pp.95-99, 5 p.
Publisher
Egyptian Society of Human Genetics
Publication Date
2015-03-31
Country of Publication
Egypt
No. of Pages
5
Main Subjects
Topics
Abstract EN
Background : Primary ciliary dyskinesia is a genetically heterogeneous autosomal recessive disorder with variable clinical manifestations, including chronic rhinosinusitis, otitis media, bronchitis, pneumonia, bronchiectasis, situs inversus totalis, reduced fertility in female patients and male infertility.
The condition occurs as a result of abnormal ciliary structure and function.
It is presented in early life with an estimated incidence of approximately 1 / 16,000-20,000.
About 50 % of the affected patients have situs inversus totalis leading to Kartagener syndrome (MIM : 244400).
So far more than 19 causative genes have been associated with primary ciliary dyskinesia.
Case report : Here we are presenting Kartagener syndrome in a consanguineous Kuwaiti family with a novel pathogenic DNAH5 gene mutation ; namely c.9864dupA ; [p.Pro3289ThrfsStop52], which is predicted to result in protein truncation.
In this family several homozygous individuals showed variable disease manifestations.
Conclusion : Molecular test helped in confirmation of the clinical diagnosis and in providing better management of the affected family members, which in turn could significantly improve overall quality of their life.
Consequently, preimplantation genetic diagnosis, which is the most acceptable procedure in the Islamic countries, was offered to the heterozygous-carrier couple in order to prevent recurrence of the disease in their future generations.
American Psychological Association (APA)
Marafi, Makia J.& al-Sulayman, Ibrahim S.& Rida, Abd Allah M.& Alshati, Abd al-Rahman M.. 2015. Primary ciliary dyskinesia-kartagener syndrome in a family with a novel DNAH5 gene mutation and variable phenotypes. The Egyptian Journal of Medical Human Genetics،Vol. 16, no. 1, pp.95-99.
https://search.emarefa.net/detail/BIM-517484
Modern Language Association (MLA)
Marafi, Makia J.…[et al.]. Primary ciliary dyskinesia-kartagener syndrome in a family with a novel DNAH5 gene mutation and variable phenotypes. The Egyptian Journal of Medical Human Genetics Vol. 16, no. 1 (2015), pp.95-99.
https://search.emarefa.net/detail/BIM-517484
American Medical Association (AMA)
Marafi, Makia J.& al-Sulayman, Ibrahim S.& Rida, Abd Allah M.& Alshati, Abd al-Rahman M.. Primary ciliary dyskinesia-kartagener syndrome in a family with a novel DNAH5 gene mutation and variable phenotypes. The Egyptian Journal of Medical Human Genetics. 2015. Vol. 16, no. 1, pp.95-99.
https://search.emarefa.net/detail/BIM-517484
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references : p. 99
Record ID
BIM-517484