Clinical and molecular aspects of PTEN mutations in 10 pediatric patients
Küçük Resim Yok
Tarih
2020
Dergi Başlığı
Dergi ISSN
Cilt Başlığı
Yayıncı
Wiley
Erişim Hakkı
info:eu-repo/semantics/closedAccess
Özet
Introduction PTEN gene mutations are responsible for the PTEN hamartoma tumor syndrome (PHTS). in this study, clinical and molecular findings of patients carrying PTEN mutations are presented. Our aim is to contribute to genotype-phenotype correlation and define the most common findings of the syndrome in pediatric patients. Methods and Materials Ten molecularly confirmed PHTS patients from seven families were included in the study. All patients were examined by a clinical geneticist. Laboratory test results were obtained from hospital records. Sequencing of PTEN gene was performed. Variant interpretation was done in accordance with 2015 recommendations from the American College of Medical Genetics. Results Macrocephaly was the most common clinical finding, involving all patients. This was followed by skin lesions, neurodevelopmental delay, and pathologic cranial magnetic resonance imaging findings. Seven different heterozygous PTEN gene variants were found in seven families. Four of these were located in exon 5, which has been described as a hot spot area for the PTEN gene. Four mutations were novel. A wide range of phenotypic and genotypic spectra was found in our study group. Conclusion Screening of PTEN mutations in patients with macrocephaly is recommended due to an increased risk of cancer. Further cases are needed to make a phenotype-genotype correlation in PHTS.
Açıklama
Anahtar Kelimeler
Bannayan-Riley-Ruvalcaba syndrome, Cowden syndrome, macrocephaly, mutation spectrum, PTEN
Kaynak
Annals of Human Genetics
WoS Q Değeri
Q4
Scopus Q Değeri
Q3
Cilt
84
Sayı
4
