کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
8644798 | 1569768 | 2018 | 23 صفحه PDF | دانلود رایگان |
عنوان انگلیسی مقاله ISI
SLC25A13 c.1610_1612delinsAT mutation in an Indian patient and literature review of 79 cases of citrin deficiency for genotype-phenotype associations
دانلود مقاله + سفارش ترجمه
دانلود مقاله ISI انگلیسی
رایگان برای ایرانیان
کلمات کلیدی
INHOTCALTCTLN2NICCDidiopathic neonatal hepatitiscitrin deficiencySLC25A13AST - آسپارتات ترانس آمینازAspartate aminotransferase - آسپارتات ترانس آمیناز یا AST Alanine aminotransferase - آلانین آمینوترانسفرازALP - آلکالن فسفاتازAlkaline phosphatase - آلکالین فسفاتاز یا فسفاتاز قلیاییOrnithine transcarbamylase - ترانس کربامیلاز اورنیتینHyperammonemia - هیپرامومنیا
موضوعات مرتبط
علوم زیستی و بیوفناوری
بیوشیمی، ژنتیک و زیست شناسی مولکولی
ژنتیک
پیش نمایش صفحه اول مقاله
چکیده انگلیسی
Here, we report SLC25A13 c.1610_1612delinsAT mutation from India in a 13-year old boy who presented with recurrent episodes of delirium and hyperammonemia. This is the second case with this mutation; the first case was of Pakistani origin. The boy responded to diet modification, sodium benzoate and arginine supplementation. Furthermore, we have aimed to establish genotype-phenotype correlation of 79 cases of citrin deficiency (46 males and 33 females) reported in 24 studies from all over the world. Inverse association was observed between age of onset and jaundice (râ¯=â¯â0.73). Late age of onset was associated with delirium (râ¯=â¯0.61), aggressive behaviour (râ¯=â¯0.67), altered sensorium (râ¯=â¯0.67) and tremors (râ¯=â¯0.65). The most common mutations associated with citrin deficiency were c.851_854del4, IVS16ins3kb, 1638-1660dup with a frequency of 42.41%, 16.46% and 6.33%, respectively. The c.851_854del4 mutation showed positive association with alpha feto protein (râ¯=â¯0.40), ammonia (râ¯=â¯0.50) and tyrosine (râ¯=â¯0.40) while showing inverse association with threonine (râ¯=â¯â0.55). The IVS16ins3kb mutation was associated with high total (râ¯=â¯0.65) and conjugated bilirubin (râ¯=â¯0.54) along with high aspartate transaminase (râ¯=â¯0.49) while citrulline levels are lower (râ¯=â¯â0.36). To conclude, all cases of intrahepatic cholestasis and neuropsychiatric abnormalities should be evaluated for citrin deficiency. However, the ethnic group-specific mutation frequencies should be considered in implementing screening.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Gene - Volume 668, 20 August 2018, Pages 190-195
Journal: Gene - Volume 668, 20 August 2018, Pages 190-195
نویسندگان
Akella Radha Rama Devi, Shaik Mohammad Naushad,