1.
Am J Med Genet A
; 188(4): 1245-1250, 2022 04.
Artículo
en Inglés
| MEDLINE
| ID: mdl-34897952
RESUMEN
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.
Asunto(s)
Neuropatías Hereditarias Sensoriales y Autónomas , Distonina/genética , Neuropatías Hereditarias Sensoriales y Autónomas/diagnóstico , Neuropatías Hereditarias Sensoriales y Autónomas/genética , Humanos , Lactante , Masculino , Neuronas/metabolismo , Fenotipo , Isoformas de Proteínas/genética
2.
J Perinatol
; 38(6): 633-635, 2018 06.
Artículo
en Inglés
| MEDLINE
| ID: mdl-29467517