Primary ciliary dyskinesia: Kartagener syndrome in a family with a novel DNAH5 gene mutation and variable phenotypes
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 infer...
Main Authors: | , , , |
---|---|
Format: | Article |
Language: | English |
Published: |
SpringerOpen
2015-01-01
|
Series: | Egyptian Journal of Medical Human Genetics |
Subjects: | |
Online Access: | http://www.sciencedirect.com/science/article/pii/S111086301400086X |
id |
doaj-7759f467ccc94b948cbef3d935f5d1dd |
---|---|
record_format |
Article |
spelling |
doaj-7759f467ccc94b948cbef3d935f5d1dd2020-11-25T02:32:51ZengSpringerOpenEgyptian Journal of Medical Human Genetics1110-86302015-01-01161959910.1016/j.ejmhg.2014.08.001Primary ciliary dyskinesia: Kartagener syndrome in a family with a novel DNAH5 gene mutation and variable phenotypesMakia J. MarafieIbrahim S. Al SulimanAbdullah M. RedhaAbdulrahman M. AlshatiBackground: 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.http://www.sciencedirect.com/science/article/pii/S111086301400086XArabConsanguinityDNAH5Kartagener syndromePreimplantation genetic diagnosisPrimary ciliary dyskinesia |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Makia J. Marafie Ibrahim S. Al Suliman Abdullah M. Redha Abdulrahman M. Alshati |
spellingShingle |
Makia J. Marafie Ibrahim S. Al Suliman Abdullah M. Redha Abdulrahman M. Alshati Primary ciliary dyskinesia: Kartagener syndrome in a family with a novel DNAH5 gene mutation and variable phenotypes Egyptian Journal of Medical Human Genetics Arab Consanguinity DNAH5 Kartagener syndrome Preimplantation genetic diagnosis Primary ciliary dyskinesia |
author_facet |
Makia J. Marafie Ibrahim S. Al Suliman Abdullah M. Redha Abdulrahman M. Alshati |
author_sort |
Makia J. Marafie |
title |
Primary ciliary dyskinesia: Kartagener syndrome in a family with a novel DNAH5 gene mutation and variable phenotypes |
title_short |
Primary ciliary dyskinesia: Kartagener syndrome in a family with a novel DNAH5 gene mutation and variable phenotypes |
title_full |
Primary ciliary dyskinesia: Kartagener syndrome in a family with a novel DNAH5 gene mutation and variable phenotypes |
title_fullStr |
Primary ciliary dyskinesia: Kartagener syndrome in a family with a novel DNAH5 gene mutation and variable phenotypes |
title_full_unstemmed |
Primary ciliary dyskinesia: Kartagener syndrome in a family with a novel DNAH5 gene mutation and variable phenotypes |
title_sort |
primary ciliary dyskinesia: kartagener syndrome in a family with a novel dnah5 gene mutation and variable phenotypes |
publisher |
SpringerOpen |
series |
Egyptian Journal of Medical Human Genetics |
issn |
1110-8630 |
publishDate |
2015-01-01 |
description |
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. |
topic |
Arab Consanguinity DNAH5 Kartagener syndrome Preimplantation genetic diagnosis Primary ciliary dyskinesia |
url |
http://www.sciencedirect.com/science/article/pii/S111086301400086X |
work_keys_str_mv |
AT makiajmarafie primaryciliarydyskinesiakartagenersyndromeinafamilywithanoveldnah5genemutationandvariablephenotypes AT ibrahimsalsuliman primaryciliarydyskinesiakartagenersyndromeinafamilywithanoveldnah5genemutationandvariablephenotypes AT abdullahmredha primaryciliarydyskinesiakartagenersyndromeinafamilywithanoveldnah5genemutationandvariablephenotypes AT abdulrahmanmalshati primaryciliarydyskinesiakartagenersyndromeinafamilywithanoveldnah5genemutationandvariablephenotypes |
_version_ |
1724817318450561024 |