کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
8342967 | 1541545 | 2018 | 28 صفحه PDF | دانلود رایگان |
عنوان انگلیسی مقاله ISI
Novel founder intronic variant in SLC39A14 in two families causing Manganism and potential treatment strategies
دانلود مقاله + سفارش ترجمه
دانلود مقاله ISI انگلیسی
رایگان برای ایرانیان
کلمات کلیدی
SLC39A14DcTNBIADMSAWESOHSUCBCPKANqRT-PCRCaNa2EDTADDCTBy mouthcDNA - cDNAComplementary DNA - DNA تکمیلیdimercaptosuccinic acid - اسید dimercaptosuccinicUAE - امارات متحده عربیUnited Arab Emirates - امارات متحده عربیMRI - امآرآی یا تصویرسازی تشدید مغناطیسیneurodegeneration with brain iron accumulation - ایجاد عصبی با تجمع آهن مغزMagnetic resonance imaging - تصویربرداری رزونانس مغناطیسیWhole exome sequencing - توالی کامل exometwice daily - دو بار در روزManganese toxicity - سمیت منگنزcomplete blood count - شمارش کامل خونManganese - منگنز PAS - نهpolymerase chain reaction - واکنش زنجیره ای پلیمرازreal-time quantitative reverse transcription polymerase chain reaction - واکنش زنجیره ای پلیمراز معکوس رونویسی معکوس زمان واقعیPCR - واکنش زنجیرهٔ پلیمرازPantothenate Kinase-Associated Neurodegeneration - پانتوتنات کیناز - Associated NeurodegenerationBID - پیشنهاد
موضوعات مرتبط
علوم زیستی و بیوفناوری
بیوشیمی، ژنتیک و زیست شناسی مولکولی
زیست شیمی
پیش نمایش صفحه اول مقاله
چکیده انگلیسی
Congenital disorders of manganese metabolism are rare occurrences in children, and medical management of these disorders is complex and challenging. Homozygous exonic mutations in the manganese transporter SLC39A14 have recently been associated with a pediatric-onset neurodegenerative disorder characterized by brain manganese accumulation and clinical signs of manganese neurotoxicity, including parkinsonism-dystonia. We performed whole exome sequencing on DNA samples from two unrelated female children from the United Arab Emirates with progressive movement disorder and brain mineralization, identified a novel homozygous intronic mutation in SLC39A14 in both children, and demonstrated that the mutation leads to aberrant splicing. Both children had consistently elevated serum manganese levels and were diagnosed with SLC39A14-associated manganism. Over a four-year period, we utilized a multidisciplinary management approach for Patient 1 combining decreased manganese dietary intake and chelation with symptomatic management of dystonia. Our treatment strategy appeared to slow disease progression, but did not lead to a cure or reversal of already established deficits. Clinicians should consider testing for noncoding mutations in the diagnosis of congenital disorders of manganese metabolism and utilizing multidisciplinary approaches in the management of these disorders.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Molecular Genetics and Metabolism - Volume 124, Issue 2, June 2018, Pages 161-167
Journal: Molecular Genetics and Metabolism - Volume 124, Issue 2, June 2018, Pages 161-167
نویسندگان
Lance H. Rodan, Marissa Hauptman, Alissa M. D'Gama, Anita E. Qualls, Siqi Cao, Karin Tuschl, Fatma Al-Jasmi, Jozef Hertecant, Susan J. Hayflick, Marianne Wessling-Resnick, Edward T. Yang, Gerard T. Berry, Andrea Gropman, Alan D. Woolf, Pankaj B. Agrawal,