کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
2815377 | 1159867 | 2015 | 7 صفحه PDF | دانلود رایگان |
عنوان انگلیسی مقاله ISI
Succinic semialdehyde dehydrogenase deficiency of four Chinese patients and prenatal diagnosis for three fetuses
ترجمه فارسی عنوان
کمبود سمیالدئید دهیدروژناز ساکنینین از چهار بیمار چینی و تشخیص قبل از تولد برای سه جنین
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کلمات کلیدی
ALDH5A1 gene4-Hydroxybutyric aciduriaSuccinic semialdehyde dehydrogenase - semialdehydedehydrogenase سسنزینγ-Aminobutyric acid (GABA) - γ-آمینوآباتیک اسید (GABA)γ-aminobutyric acid - اسید γ-آمینوبوتیریکElectroencephalography - الکتروانسافالوگرافیPrenatal diagnosis - تشخیص پیش از تولدNovel mutation - جهش رمانSSADH - علامتEEG - نوار مغزیSuccinic semialdehyde dehydrogenase deficiency - کمبود سمیالدئید دهیدروژناز ساکنینGABA - گابا
موضوعات مرتبط
علوم زیستی و بیوفناوری
بیوشیمی، ژنتیک و زیست شناسی مولکولی
ژنتیک
چکیده انگلیسی
Succinic semialdehyde dehydrogenase (SSADH) deficiency is a rare autosomal recessive disorder that affects the degradation of γ-aminobutyric acid (GABA). Only a few cases of SSADH deficiency have been documented in mainland China and prenatal diagnosis has not been performed. SSADH deficiency in four patients (three girls and one boy) from four unrelated Chinese families was detected by selective screening at the age of 50 days to 1 year. Four patients were admitted due to intractable seizures and psychomotor retardation. Their urine 4-hydroxybutyric acid was significantly elevated. Seven mutations in their ALDH5A1 gene were identified, of which the following six were novel: c.127-128insGGCCC (p.L31Pfs*62), c.615delT (p.F206Sfs*5), c.1313T>C (p.L438P), c.1568C>T (p.S523F), 1383-2delA and a 0.15-Mb deletion harboring ALDH5A1. Only one mutation, c.820C>T, had been previously reported. Three mothers of Patients 1-3 underwent amniocentesis during their third pregnancy and the fetuses were not affected by SSADH deficiency. Normal development and urine organic acid levels of the infants confirmed the prenatal diagnosis after birth.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Gene - Volume 574, Issue 1, 10 December 2015, Pages 41-47
Journal: Gene - Volume 574, Issue 1, 10 December 2015, Pages 41-47
نویسندگان
Xiyuan Li, Yuan Ding, Yupeng Liu, Yao Zhang, Jinqing Song, Qiao Wang, Mengqiu Li, Yaping Qin, Shangzhi Huang, Yanling Yang,