Neurofibromatosis Type 1 and Hypospadias in a Male 46, XY with a Mutation in the
Colombia
cafe-au-lait macules
external genitalia development
tumor predisposition syndrome
Journal
Pharmacogenomics and personalized medicine
ISSN: 1178-7066
Titre abrégé: Pharmgenomics Pers Med
Pays: New Zealand
ID NLM: 101514107
Informations de publication
Date de publication:
2022
2022
Historique:
received:
01
07
2022
accepted:
22
09
2022
entrez:
1
11
2022
pubmed:
2
11
2022
medline:
2
11
2022
Statut:
epublish
Résumé
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
Identifiants
pubmed: 36317063
doi: 10.2147/PGPM.S380796
pii: 380796
pmc: PMC9617560
doi:
Types de publication
Case Reports
Langues
eng
Pagination
873-878Informations de copyright
© 2022 Perafan-Valdes et al.
Déclaration de conflit d'intérêts
The authors have no conflicts of interest in relation to this work to declare.
Références
Sex Dev. 2015;9(5):239-259
pubmed: 26613581
Epigenetics Chromatin. 2019 Aug 7;12(1):48
pubmed: 31391075
Fertil Steril. 2018 Jun;109(6):1105-1113
pubmed: 29935645
Pediatrics. 2009 Jan;123(1):124-33
pubmed: 19117870
Oncotarget. 2017 Jun 13;8(24):39695-39702
pubmed: 27980226
Biomed J. 2021 Aug;44(4):422-432
pubmed: 34175492
Annu Rev Genomics Hum Genet. 2013;14:355-69
pubmed: 23875798
Cancer Res. 2009 Sep 15;69(18):7393-401
pubmed: 19738042
J Med Genet. 2012 Aug;49(8):483-9
pubmed: 22889851
Eur J Pediatr. 2017 Apr;176(4):435-441
pubmed: 28190103
Genet Med. 2015 May;17(5):405-24
pubmed: 25741868
Genet Med. 2010 Jan;12(1):1-11
pubmed: 20027112
Birth Defects Res A Clin Mol Teratol. 2015 Nov;103(11):972-93
pubmed: 26611917
Semin Reprod Med. 2012 Oct;30(5):374-81
pubmed: 23044873
Front Neurol. 2021 Sep 08;12:704639
pubmed: 34566848
Hum Genet. 1995 Jul;96(1):95-8
pubmed: 7607663
Genet Med. 2021 Aug;23(8):1506-1513
pubmed: 34012067
Genes (Basel). 2019 Jul 31;10(8):
pubmed: 31370276
Genet Med. 2018 Sep;20(9):1082-1086
pubmed: 29215653
N Engl J Med. 2009 Mar 19;360(12):1200-10
pubmed: 19246354