A case of PTPN11 mutation-related Noonan syndrome
نویسندگان
چکیده
Noonan Syndrome (NS) is an autosomal dominant disorder in which parents with syndrome have a 50percent chance of passing the mutation to their children, most commonly due PTPN11 gene. In clinical case, we identified male child who showed features such as short stature, congenital heart disease and peculiar facial appearance, strongly suspecting syndrome. The purpose this article report presentation case
منابع مشابه
KRAS Analysis in 34 Noonan Syndrome Patients without PTPN11 Mutation
Patients This study consisted of 34 NS patients (22 males and 12 females) aged 0.1–34.5 years who met the diagnostic criteria proposed by van der Burgt et al. (8). All patients were found to have no discernible mutations in the coding exons 1– 15 of PTPN11 by direct sequencing; the clinical and molecular data in PTPN11 mutation positive patients have been reported previously (9). The karyotype ...
متن کاملA mother and son with Noonan syndrome resulting from a PTPN11 mutation.
Recently, we read a report about Noonan syndrome entitled “A mother and son with Noonan syndrome resulting from a PTPN11 mutation: first report of molecularly proven cases from Turkey” published in the Turkish Journal of Pediatrics (2010; 52: 321-324). The authors reported a mother and son with Noonan syndrome (NS) whose molecular analysis showed an A923G mutation in exon 8 of the PTPN11 gene. ...
متن کاملGermline PTPN11 missense mutation in a case of Noonan syndrome associated with mediastinal and retroperitoneal neuroblastic tumors.
Noonan syndrome (NS) is an autosomal dominant disorder characterized by short stature, typical craniofacial dysmorphism, skeletal anomalies, congenital heart defects, and predisposition to malignant tumors. In approximately 50% of cases, the disease is caused by missense mutations in the PTPN11 gene. To date, solid tumors, and particularly brain tumors and rhabdomyosarcomas, have been documente...
متن کاملHotspots in PTPN11 Gene Among Indian Children With Noonan Syndrome.
OBJECTIVE To test for PTPN11 mutations in clinically diagnosed cases of Noonan syndrome. METHODS 17 individuals with clinical diagnosis of Noonan syndrome were included in the study. Sanger sequencing of all the 15 exons of PTPN11 was done. A genotype-phenotype correlation was attempted. RESULTS Mutation in PTPN11 was detected in 11 out of 17 (64.7%) patients with Noonan syndrome; 72% had m...
متن کاملA mother and son with Noonan syndrome resulting from a PTPN11 mutation: first report of molecularly proven cases from Turkey.
Noonan syndrome is an autosomal dominant disorder characterized by short stature, typical craniofacial features, and congenital heart defects. The underlying genetic defects were not clear until 2001. This report is the first to describe a molecular analysis and associated clinical features of a Turkish mother and son, who were clinically diagnosed as Noonan syndrome when the boy was referred t...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Journal of clinical images and medical case reports
سال: 2022
ISSN: ['2766-7820']
DOI: https://doi.org/10.52768/2766-7820/2022