دورية أكاديمية
Inherited interstitial deletion of 3p22.3—p23 involving GPD1L gene
العنوان: | Inherited interstitial deletion of 3p22.3—p23 involving GPD1L gene |
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المؤلفون: | Hoang H. Nguyen, Krishna Kishore Umapathi, Richard Dineen, Raymond Morales, Mindy H. Li |
المصدر: | Cardiogenetics, Vol 10, Iss 1 (2020) |
بيانات النشر: | MDPI AG, 2020. |
سنة النشر: | 2020 |
المجموعة: | LCC:Diseases of the circulatory (Cardiovascular) system |
مصطلحات موضوعية: | 3p deletion, GPD1L gene, Brugada syndrome., Diseases of the circulatory (Cardiovascular) system, RC666-701 |
الوصف: | We report the first case of a 294 kb loss, notable for including the entirety of GPD1L, on chromosome 3p22.3—p24 in a 3-year-old girl with multiple congenital anomalies including absent left foot, single umbilical artery, bilateral vesico-ureteral reflux, rectovaginal fistula, and imperforate anus. Although GPD1L mutations have been associated with cardiac arrhythmias, including Brugada syndrome and sudden unexpected infant death syndrome, full deletions in the GPD1L gene have not been reported neither the patient nor her mother, who was later identified to carry the variant, have any signs or symptoms of Brugada syndrome. This may indicate these individuals have findings that have not yet been identified, full gene deletions of GDP1L are not necessarily disease causing, or there is incomplete penetrance of this gene or cardiac manifestations can occur at a later age. |
نوع الوثيقة: | article |
وصف الملف: | electronic resource |
اللغة: | English |
تدمد: | 2035-8253 2035-8148 |
Relation: | https://www.pagepressjournals.org/index.php/cardiogen/article/view/9193; https://doaj.org/toc/2035-8253; https://doaj.org/toc/2035-8148 |
DOI: | 10.4081/cardiogenetics.2020.9193 |
URL الوصول: | https://doaj.org/article/14d3ef2af3984df8a0dd200ba06098a7 |
رقم الأكسشن: | edsdoj.14d3ef2af3984df8a0dd200ba06098a7 |
قاعدة البيانات: | Directory of Open Access Journals |
تدمد: | 20358253 20358148 |
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DOI: | 10.4081/cardiogenetics.2020.9193 |