1042 Whole-exome sequencing of the patient with pyoderma gangrenosum
نویسندگان
چکیده
منابع مشابه
Identification of the rs797045105 in the SERAC1 gene by Whole-Exome Sequencing in a Patient Suspicious of MEGDEL Syndrome
Whole Exome Sequencing (WES) has been increasingly utilized in genetic determinants of various inherited diseases. We identified a new variation in SERAC1 as the cause of 3-Methylglutaconic Aciduria (MEG), Deafness (D), Encephalopathy (E), and Leigh-like (L), MEGDEL syndrome using WES. We found an insertion, rs797045105 (chr6, 158571484, C>CCATG), in the SERAC1 gene with homozygous genotype in ...
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Background: Hemophagocytic lymphohistiocytosis (HLH) is an immune system disorder characterized by uncontrolled hyper-inflammation owing to hypercytokinemia from the activated but ineffective cytotoxic cells. Establishing a correct diagnosis for HLH patients due to the similarity of this disease with other conditions like malignant lymphoma and leukemia and similarity among its two forms is dif...
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Background: Nephronophthisis (NPHP) is a progressive tubulointestinal kidney condition that demonstrates an AR inheritance pattern. Up to now, more than 20 various genes have been detected for NPHP, with NPHP1 as the first one detected. X-prolyl aminopeptidase 3 (XPNPEP3) mutation is related to NPHP-like 1 nephropathy and late onset NPHP. Methods: The proband (index patient) had polyuria, polyd...
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Background: Progressive encephalopathy with or without lipodystrophy is a rare autosomal recessive childhood-onset seipin-associated neurodegenerative syndrome, leading to developmental regression of motor and cognitive skills. In this study, we introduce a patient with developmental regression and autism. The causative mutation was found by exome sequencing. Methods: The proband showed a gener...
متن کاملPyoderma gangrenosum in a patient with antiphospholipid antibody negative systemic lupus erythematosus: A case report
In any description of leg ulcers in systemic lupus erythematosus (SLE), pyoderma gangrenosum (PG) earns a mention at least for its being quite rare in such patients. The causative role of aPL (antiphospholipid antibody) in dermatological manifestations of SLE is undermined by the occurrence of PG in aPL negative SLE patients. To the best of our knowledge, there are only two reports of PG in aPL...
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ژورنال
عنوان ژورنال: Journal of Investigative Dermatology
سال: 2018
ISSN: 0022-202X
DOI: 10.1016/j.jid.2018.03.1054