快速全基因组测序鉴定出一种与1型自身免疫性多内分泌腺综合征相关的新型变体。
Rapid whole-genome sequencing identifies a novel variant associated with autoimmune polyendocrine syndrome type 1.
作者信息
Sanford Erica, Watkins Kelly, Nahas Shareef, Gottschalk Michael, Coufal Nicole G, Farnaes Lauge, Dimmock David, Kingsmore Stephen F
机构信息
Rady Children's Institute of Genomic Medicine, University of California, San Diego, San Diego, California 92123, USA.
Division of Pediatric Intensive Care Medicine, Department of Pediatrics, University of California, San Diego, San Diego, California 92161, USA.
出版信息
Cold Spring Harb Mol Case Stud. 2018 Jun 1;4(3). doi: 10.1101/mcs.a002485. Print 2018 Jun.
Autoimmune polyendocrine syndrome type 1 (APS-1; OMIM #240300), also referred to as autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED), is a rare monogenic autoimmune disorder caused by mutations in the autoimmune regulator ( gene. APS-1 is classically characterized by a triad of chronic mucocutaneous candidiasis, autoimmune hypoparathyroidism, and autoimmune adrenocortical insufficiency. We report a 5-yr-old female who presented with symptoms of tetany due to hypocalcemia and was subsequently found to be secondary to hypoparathyroidism. Rapid trio whole-genome sequencing revealed compound heterozygous variants in in the proband, with a paternally inherited, pathogenic, frameshift variant (c.1265delC; p.Pro422LeufsTer58) and a novel, likely pathogenic, maternally inherited missense variant (c.268T>C; p.Tyr90His).
1型自身免疫性多内分泌腺综合征（APS-1；OMIM #240300），也被称为自身免疫性多内分泌病-念珠菌病-外胚层营养不良（APECED），是一种由自身免疫调节因子（AIRE）基因突变引起的罕见单基因自身免疫性疾病。APS-1的典型特征是慢性黏膜皮肤念珠菌病、自身免疫性甲状旁腺功能减退和自身免疫性肾上腺皮质功能不全三联征。我们报告了一名5岁女性，因低钙血症出现手足搐搦症状，随后发现是继发于甲状旁腺功能减退。快速三联全基因组测序显示先证者存在复合杂合变异，一个来自父亲的致病性移码变异（c.1265delC；p.Pro422LeufsTer58）和一个新的可能致病的来自母亲的错义变异（c.268T>C；p.Tyr90His）。
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