Neurofibromatosis Type 1 and Hypospadias in a Male 46, XY with a Mutation in the NF1 Gene and a Mutation in NR5A1

被引：1
|
作者：
Perafan-Valdes, Lina [1 ,2 ]
Giraldo-Ocampo, Sebastian [3 ]
Lores, Juliana [2 ]
Pachajoa, Harry [2 ,4 ,5 ]
机构：
[1] Univ Libre, Programa Maestria Epidemiol, Cali, Colombia
[2] Fdn Valle Lili, Genet Div, Cali, Colombia
[3] Univ Valle, Dept Microbiol, Cali, Colombia
[4] Univ Icesi, Ctr Invest Anomalias Congenitas & Enfermedades Rar, Cali, Colombia
[5] Fdn Valle Lili, Genet Div, Carrera 98 18-49, Cali, Colombia
来源：
PHARMACOGENOMICS & PERSONALIZED MEDICINE | 2022年 / 15卷
关键词：
tumor predisposition syndrome; cafe-au-lait macules; external genitalia development; Colombia;
D O I：
10.2147/PGPM.S380796
中图分类号：
R9 [药学];
学科分类号：
1007 ;
摘要：
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.
引用
收藏
页码：873 / 878
页数：6
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