دورية أكاديمية
أعرض في EDS

Inherited interstitial deletion of 3p22.3—p23 involving GPD1L gene

التفاصيل البيبلوغرافية
العنوان: Inherited interstitial deletion of 3p22.3—p23 involving GPD1L gene
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
الوصف
تدمد:20358253
20358148
DOI:10.4081/cardiogenetics.2020.9193