کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
5513935 | 1400687 | 2017 | 7 صفحه PDF | دانلود رایگان |
عنوان انگلیسی مقاله ISI
A rare case of sterol-C4-methyl oxidase deficiency in a young Italian male: Biochemical and molecular characterization
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کلمات کلیدی
NSDHLSLOSGC-FIDSC4MOLFF-MASDHPLCT-MASLXRNISTGC–MS - GC-MScataracts - آب مرواریدSmith–Lemli–Opitz syndrome - اسمیت-لملی-اپیتس سندرمdevelopmental delay - تاخیر رشدgas chromatography–mass spectrometry - طیف سنجی جرم کروماتوگرافی گازpolymerase chain reaction - واکنش زنجیره ای پلیمرازPCR - واکنش زنجیرهٔ پلیمرازliver X receptor - کبد X گیرندهDenaturing high-performance liquid chromatography - کروماتوگرافی مایع با کارایی بالاChild - کودکGas Chromatography-Flame Ionization Detector - گاز کروماتوگرافی-شعله یونیزاسیون آشکارساز
موضوعات مرتبط
علوم زیستی و بیوفناوری
بیوشیمی، ژنتیک و زیست شناسی مولکولی
زیست شیمی
پیش نمایش صفحه اول مقاله

چکیده انگلیسی
Inborn defects of cholesterol biosynthesis are metabolic disorders presenting with multi-organ and tissue anomalies. An autosomal recessive defect involving the demethylating enzyme C4-methyl sterol (SC4MOL) has been reported in only 4 patients so far. In infancy, all patients were affected by microcephaly, bilateral congenital cataracts, growth delay, psoriasiform dermatitis, immune dysfunction, and intellectual disability. Herein, we describe a new case of SC4MOL deficiency in which a 19-year-old Italian male was affected by bilateral congenital cataracts, growth delay and learning disabilities, behavioral disorders and small stature, but not microcephaly. Our patient had abundant scalp dandruff, without other skin manifestations. Analysis of the blood sterol profile showed accumulation of C4-monomethyl and C4-dimethyl sterols suggesting a deficiency of the SC4MOL enzyme. Sequencing of the MSMO1 gene (also known as the “SC4MOL” gene) confirmed mutations in each allele (c.731AÂ >Â G, p.Y244C, which is already known, and c.605GÂ >Â A, p.G202E, which is a novel variant). His father carried c.731AÂ >Â G mutation, whereas his mother carried c.605GÂ >Â A. Thus, the combination of multiple skills and methodologies, in particular, blood sterol profiling and genetic analysis, led to the diagnosis of a new case of a very rare defect of cholesterol biosynthesis. Consequently, we suggest that these two analyses should be performed as soon as possible in all undiagnosed patients affected by bilateral cataracts and developmental delay.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Molecular Genetics and Metabolism - Volume 121, Issue 4, August 2017, Pages 329-335
Journal: Molecular Genetics and Metabolism - Volume 121, Issue 4, August 2017, Pages 329-335
نویسندگان
Giulia Frisso, Monica Gelzo, Elena Procopio, Concetta Sica, Maria Pia Lenza, Antonio Dello Russo, Maria Alice Donati, Francesco Salvatore, Gaetano Corso,