Hotspots in PTPN11 Gene Among Indian Children With Noonan Syndrome
Dhanya Lakshmi Narayanan1, Himani Pandey, Amita Moirangthem
1Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute, Lucknow, Uttar Pradesh; *GRIPMER and Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, New Delhi; #Clinical Genetics, Narayana Hrudayalaya Hospitals, Bangalore, Karnataka, India. Correspondence to: Dr Kausik Mandal, Associate Professor, Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute, Lucknow, Uttar Pradesh, India. mandal.kausik@gmail.com.
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 mutation in exon 3 and 27 % had mutation in exon 13.
Conclusion:
PTPN11 mutation accounts for 64.7% of cases with clinical features of Noonan syndrome in India. Majority of the mutations are in exon 3 and exon 13 of PTPN11, making them the hotspots in Indian population.
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