Hotspots in PTPN11 gene among Indian children with Noonan syndrome

Dhanya Lakshmi Narayanan; Himani Pandey; Amita Moirangthem; Kausik Mandal; Rekha Gupta; Ratna Dua Puri; S. J. Patil; Shubha R. Phadke

doi:10.1007/s13312-017-1125-z

Hotspots in PTPN11 gene among Indian children with Noonan syndrome

Dhanya Lakshmi Narayanan, Himani Pandey, Amita Moirangthem, Kausik Mandal, Rekha Gupta, Ratna Dua Puri, S. J. Patil, Shubha R. Phadke

Department of Medical Genetics, Kasturba Medical College, Manipal

Research output: Contribution to journal › Article › peer-review

7 Citations (Scopus)

Abstract

Objectives: 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.

Original language	English
Pages (from-to)	638-640
Number of pages	3
Journal	Indian Pediatrics
Volume	54
Issue number	8
DOIs	https://doi.org/10.1007/s13312-017-1125-z
Publication status	Published - 01-08-2017

All Science Journal Classification (ASJC) codes

Pediatrics, Perinatology, and Child Health

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10.1007/s13312-017-1125-z

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title = "Hotspots in PTPN11 gene among Indian children with Noonan syndrome",

abstract = "Objectives: 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.",

author = "Narayanan, {Dhanya Lakshmi} and Himani Pandey and Amita Moirangthem and Kausik Mandal and Rekha Gupta and Puri, {Ratna Dua} and Patil, {S. J.} and Phadke, {Shubha R.}",

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doi = "10.1007/s13312-017-1125-z",

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T1 - Hotspots in PTPN11 gene among Indian children with Noonan syndrome

AU - Narayanan, Dhanya Lakshmi

AU - Pandey, Himani

AU - Moirangthem, Amita

AU - Mandal, Kausik

AU - Gupta, Rekha

AU - Puri, Ratna Dua

AU - Patil, S. J.

AU - Phadke, Shubha R.

PY - 2017/8/1

Y1 - 2017/8/1

N2 - Objectives: 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.

AB - Objectives: 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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JO - Indian Pediatrics

JF - Indian Pediatrics

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ER -

Hotspots in PTPN11 gene among Indian children with Noonan syndrome

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