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.
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。
