Primary ciliary dyskinesia-kartagener syndrome in a family with a novel DNAH5 gene mutation and variable phenotypes
المؤلفون المشاركون
Marafi, Makia J.
al-Sulayman, Ibrahim S.
Rida, Abd Allah M.
Alshati, Abd al-Rahman M.
المصدر
The Egyptian Journal of Medical Human Genetics
العدد
المجلد 16، العدد 1 (31 مارس/آذار 2015)، ص ص. 95-99، 5ص.
الناشر
الجمعية المصرية للأمراض الوراثية
تاريخ النشر
2015-03-31
دولة النشر
مصر
عدد الصفحات
5
التخصصات الرئيسية
الموضوعات
الملخص 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.
نمط استشهاد جمعية علماء النفس الأمريكية (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
نمط استشهاد الجمعية الأمريكية للغات الحديثة (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
نمط استشهاد الجمعية الطبية الأمريكية (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
نوع البيانات
مقالات
لغة النص
الإنجليزية
الملاحظات
Includes bibliographical references : p. 99
رقم السجل
BIM-517484
قاعدة معامل التأثير والاستشهادات المرجعية العربي "ارسيف Arcif"
أضخم قاعدة بيانات عربية للاستشهادات المرجعية للمجلات العلمية المحكمة الصادرة في العالم العربي
تقوم هذه الخدمة بالتحقق من التشابه أو الانتحال في الأبحاث والمقالات العلمية والأطروحات الجامعية والكتب والأبحاث باللغة العربية، وتحديد درجة التشابه أو أصالة الأعمال البحثية وحماية ملكيتها الفكرية. تعرف اكثر