دورية أكاديمية
A Novel Homozygous Variant in GAS2L2 in Two Sisters with Primary Ciliary Dyskinesia.
| العنوان: | A Novel Homozygous Variant in GAS2L2 in Two Sisters with Primary Ciliary Dyskinesia. |
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| المؤلفون: | Feng G; Department of Otorhinolaryngology, Head & Neck Surgery, Mie University Graduate School of Medicine, Japan., Xu Y; Department of Otorhinolaryngology, Head & Neck Surgery, Mie University Graduate School of Medicine, Japan., Saso S; Faculty of Medicine, Mie University, Japan., Sasano H; Department of Respiratory Medicine, Japan Red Cross Ise Hospital, Japan.; Department of Respiratory Medicine and Allergy, Tosei General Hospital, Japan., Kondoh S; Department of Respiratory Medicine, Japan Red Cross Ise Hospital, Japan., Itani H; Department of Respiratory Medicine, Japan Red Cross Ise Hospital, Japan., Gotoh S; Department of Drug Discovery for Lung Diseases, Graduate School of Medicine, Kyoto University, Japan., Nagao M; Institute for Clinical Research, National Hospital Organization Mie National Hospital, Japan., Ikejiri M; Department of Clinical Laboratory, Mie University Hospital, Japan., Tanabe M; Department of Clinical Laboratory, Mie University Hospital, Japan., Takeuchi K; Department of Otorhinolaryngology, Head & Neck Surgery, Mie University Graduate School of Medicine, Japan. |
| المصدر: | Internal medicine (Tokyo, Japan) [Intern Med] 2022; Vol. 61 (18), pp. 2765-2769. Date of Electronic Publication: 2022 Sep 15. |
| نوع المنشور: | Case Reports; Journal Article |
| اللغة: | English |
| بيانات الدورية: | Publisher: Japanese Society of Internal Medicine Country of Publication: Japan NLM ID: 9204241 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1349-7235 (Electronic) Linking ISSN: 09182918 NLM ISO Abbreviation: Intern Med Subsets: MEDLINE |
| أسماء مطبوعة: | Original Publication: Tokyo, Japan : Japanese Society of Internal Medicine, [1992- |
| مواضيع طبية MeSH: | Bronchiectasis*/diagnostic imaging , Bronchiectasis*/genetics , Ciliary Motility Disorders*/diagnostic imaging , Ciliary Motility Disorders*/genetics , Situs Inversus*, Female ; Humans ; Microfilament Proteins ; Microtubule-Associated Proteins/genetics ; Siblings ; Tomography, X-Ray Computed |
| مستخلص: | Primary ciliary dyskinesia (PCD) is a rare hereditary disease. We herein report two sisters in their 20s with suspected PCD. They were both born at full term and did not have situs inversus. Chest computed tomography showed similar signs of bronchiectasis in both siblings. Genetic examinations of the family confirmed that the sisters both harbored a homozygous variant in the growth-arrest-specific 2-like 2 (GAS2L2) gene. This is the third report of a family with PCD caused by a GAS2L2 variant. |
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| فهرسة مساهمة: | Keywords: GAS2L2; bronchiectasis; gene; primary ciliary dyskinesia; whole-exome sequencing |
| المشرفين على المادة: | 0 (GAS2L2 protein, human) 0 (Microfilament Proteins) 0 (Microtubule-Associated Proteins) |
| تواريخ الأحداث: | Date Created: 20220914 Date Completed: 20220916 Latest Revision: 20221028 |
| رمز التحديث: | 20231215 |
| مُعرف محوري في PubMed: | PMC9556235 |
| DOI: | 10.2169/internalmedicine.8884-21 |
| PMID: | 36104176 |
| قاعدة البيانات: | MEDLINE |
| تدمد: | 1349-7235 |
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| DOI: | 10.2169/internalmedicine.8884-21 |