Identification of a Novel Homozygous Mutation in PRDM12 Gene in a Patient with Hereditary Sensory and Autonomic Neuropathy Type VIII.
Arch Iran Med
; 27(4): 223-226, 2024 Apr 01.
Article
de En
| MEDLINE
| ID: mdl-38685849
ABSTRACT
Hereditary sensory autonomic neuropathy type VIII (HSAN-VIII) is a rare genetic disease that occurs due to mutations in the PRDM12 gene. Here, we describe a novel homozygous mutation c.826_840dupTGCAACCGCCGCTTC (p.Cys276_Phe280dup) on exon 5 in the PRDM12 gene identified by WES and confirmed using Sanger sequencing method.
Mots clés
Texte intégral:
1
Collection:
01-internacional
Base de données:
MEDLINE
Sujet principal:
Neuropathies héréditaires sensitives et autonomes
/
Protéines de transport
/
Homozygote
/
Mutation
Limites:
Female
/
Humans
/
Infant
/
Male
Langue:
En
Journal:
Arch Iran Med
Année:
2024
Type de document:
Article
Pays d'affiliation:
Iran
Pays de publication:
IR
/
IRAN
/
IRÃ