A mother and son with Noonan syndrome resulting from a PTPN11 mutation.
نویسنده
چکیده
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. It was noted that this is the first report of molecularly proven cases from Turkey. However, before that, there were two studies about NS patients and their PTPN11 gene analysis results in both a national journal and two Congresses in Turkey1-3. Furthermore, the same A923G mutation and its clinical picture was previously reported in a national journal3.
منابع مشابه
A 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 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...
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OBJECTIVE Noonan syndrome is a clinically homogeneous but genetically heterogeneous condition. Type 1 Noonan syndrome is defined by the presence of a mutation in the PTPN11 gene, which is found in approximately 40% of the cases. Phenotype descriptions and cardiac defects from cohorts with Noonan syndrome were delineated in the "pregenomic era." We report the heart defects and links to gene dysf...
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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...
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عنوان ژورنال:
- The Turkish journal of pediatrics
دوره 53 1 شماره
صفحات -
تاریخ انتشار 2011