Spectrum of Mutations in PTPN11 in Russian Cohort

Noonan syndrome is a group of diseases with a similar clinical picture, consisting of 16 diseases caused by mutations in 15 genes. According to the literature, approximately half of all cases are attributed to Noonan syndrome type 1, NSML, caused by mutations in the gene. We analyzed 456 unrelated p...

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Bibliographic Details
Published in:Genes 2024-03, Vol.15 (3), p.345
Main Authors: Orlova, Anna, Guseva, Daria, Demina, Nina, Polyakov, Aleksander, Ryzhkova, Oksana
Format: Article
Language:English
Subjects:
Alleles
Cardiomyopathy
Cardiovascular system
Cell growth
Congenital diseases
Genes
Genetic counseling
Genetic testing
Humans
Kinases
Mutation
Noonan Syndrome - genetics
Noonan's syndrome
Patients
Phosphatase
Protein Tyrosine Phosphatase, Non-Receptor Type 11 - genetics
Proteins
Pulmonary arteries
Russia
Software
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Description
Summary:Noonan syndrome is a group of diseases with a similar clinical picture, consisting of 16 diseases caused by mutations in 15 genes. According to the literature, approximately half of all cases are attributed to Noonan syndrome type 1, NSML, caused by mutations in the gene. We analyzed 456 unrelated probands using a gene panel NGS, and in 206 cases, the cause of the disease was identified. Approximately half of the cases (107) were caused by variants in the gene, including three previously undescribed variants, one of which was classified as VOUS, and the other two as LP causative complex alleles. Frequent variants of the gene characteristics for Russian patients were identified, accounting for more than 38% (c.922A>G p.Asn308Asp, c.417G>C p.Glu139Asp, c.1403C>T p.Thr468Met) of all cases with mutations in the gene. A comparative characterization of frequent variants of the gene in different populations is shown. The most common features of Noonan syndrome in the studied sample were facial dysmorphisms and cardiovascular system abnormalities. A lower representation of patients with growth delay was observed compared to previously described samples.
ISSN:2073-4425
2073-4425
DOI:10.3390/genes15030345