Neurofibromatosis Type 1 and Hypospadias in a Male 46, XY with a Mutation in the NF1 Gene and a Mutation in NR5A1 .
Lina Perafan-ValdesSebastian Giraldo-OcampoJuliana LoresHarry PachajoaPublished in: Pharmacogenomics and personalized medicine (2022)
Neurofibromatosis type 1 is one of the most common genetic autosomal dominant disorders described, with a prevalence of 1 in 2000 to 1 in 3000 individuals. It is characterized by skin, nerves, and bone abnormalities. Non-related to NF1, hypospadias is a displacement in the urethral opening which in the majority of patients has an idiopathic cause. Here, we describe a patient with neurofibromatosis type 1, hypospadias, and unilateral cryptorchidism. The heterozygous variants c.6789_6792delTTAC, p.(Tyr2264Thrfs*5) and c.140A>G, p.(Tyr47Cys) were found in the NF1 and NR5A1 genes, respectively. This case contributes to the phenotypical characterization of patients with NF1 but also with hypospadias caused by a mutation in the NR5A1 gene, which usually leads to severe sex disorders.
Keyphrases
- signaling pathway
- lps induced
- genome wide
- copy number
- pi k akt
- nuclear factor
- oxidative stress
- end stage renal disease
- genome wide identification
- early onset
- ejection fraction
- chronic kidney disease
- inflammatory response
- newly diagnosed
- dna methylation
- prognostic factors
- toll like receptor
- gene expression
- body composition
- bioinformatics analysis