导致男性婴儿遗传性感觉自主神经病 VI 型的 dystonin 基因突变：病例报告及文献复习。
A novel variant in the dystonin gene causing hereditary sensory autonomic neuropathy type VI in a male infant: Case report and literature review.
机构信息
Division of Neonatology, Department of Pediatrics, University of Tennessee Health Science Center, Memphis, Tennessee, USA.
Department of Pediatrics, Le Bonheur Children's Hospital, Memphis, Tennessee, USA.
出版信息
Am J Med Genet A. 2022 Apr;188(4):1245-1250. doi: 10.1002/ajmg.a.62609. Epub 2021 Dec 13.
The DST gene is located on chromosome 6p and encodes for a large protein. Alternative splicing of this protein produces the neuronal (a1-a3), muscular (b1-b3), and epithelial (e) isoforms. Hereditary sensory and autonomic neuropathy (HSAN) type VI is a rare autosomal recessive disorder due to mutations affecting the a2 isoform. We present a case of HSAN-VI in a male neonate born to consanguineous parents. Genome sequencing revealed a novel homozygous variant (DST_c.1118C > T; p.Pro373Leu) inherited from both parents. This case further expands the phenotype and genotype of this rare syndrome.
DST 基因位于染色体 6p 上，编码一种大型蛋白质。该蛋白质的选择性剪接产生神经元（a1-a3）、肌肉（b1-b3）和上皮（e）同工型。遗传性感觉和自主神经病（HSAN）VI 型是一种罕见的常染色体隐性遗传病，是由于影响 a2 同工型的突变引起的。我们报告了一例由近亲父母所生的男性新生儿的 HSAN-VI 病例。基因组测序显示，该变异（DST_c.1118C>T;p.Pro373Leu）是从父母双方遗传而来的一种新型纯合变异。该病例进一步扩展了这种罕见综合征的表型和基因型。
Zotero 插件