Clinical and molecular analysis of 26 individuals with Noonan syndrome in a reference institution in Colombia.
Colombia
Noonan syndrome
PTPN11
RASopathies
SHOC2
Journal
American journal of medical genetics. Part C, Seminars in medical genetics
ISSN: 1552-4876
Titre abrégé: Am J Med Genet C Semin Med Genet
Pays: United States
ID NLM: 101235745
Informations de publication
Date de publication:
12 2020
12 2020
Historique:
received:
25
10
2020
revised:
23
11
2020
accepted:
25
11
2020
pubmed:
11
12
2020
medline:
18
9
2021
entrez:
10
12
2020
Statut:
ppublish
Résumé
Our aim was to characterize the phenotype and genotype of individuals with Noonan syndrome in Colombia. There are published cohorts of Noonan individuals from several countries in Latin America including Brazil, Chile, and Argentina, but none from Colombia. We described 26 individuals with NS from a single large referral center in the South West of Colombia using an established database in the genetics department and hospital records search using ICD-10 codes. All patients included in this study were evaluated by a medical geneticist and have molecular confirmation of NS diagnosis. The median age at referral was 3.5 years (range, 0-39), and at molecular diagnosis was 5 years (range, 0-40). Patients mostly originated from the southwest region of Colombia (19/26, 73%). Pathogenic variants in PTPN11 are the most common cause of NS in Colombian individuals followed by SHOC2 and SOS1 variants. The prevalence of cardiomyopathy was low in this population compared to other populations. Further research is needed with a larger sample size and including different regions of Colombia to correlate our findings. This study provides new information about time to diagnosis of NS in Colombia, genotypes, and provides important information to help develop guidelines for diagnosis and management of this disease in the region.
Identifiants
pubmed: 33300679
doi: 10.1002/ajmg.c.31869
doi:
Substances chimiques
Intracellular Signaling Peptides and Proteins
0
SHOC2 protein, human
0
SOS1 Protein
0
SOS1 protein, human
0
PTPN11 protein, human
EC 3.1.3.48
Protein Tyrosine Phosphatase, Non-Receptor Type 11
EC 3.1.3.48
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
1042-1051Informations de copyright
© 2020 Wiley Periodicals LLC.
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