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Dergiler / Turkish Journal of Medical Sciences / 2015 / Cilt: 45 - Sayı: 2

Te frst PTPN11 mutations in hotspot exons reported in Moroccan children with Noonan syndrome and comparison of mutation rate to previous studies

Ihssane EL BOUCHIKHI
Imane SAMRI
Mohammed HOUSSAINI IRAQUI
Saaid TRHANINT
Laila BOUGUENOUCH
Hanane SAYEL
Moustapha HIDA
Samir ATMANI
Karim OULDIM
Sayfa
306–312
Yayın Tarihi
2022-11-05
DOI
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However, we found signifcant diferences in themutation rate of exon 8 between one Japanese cohort and some populations, which requires more investigations to be explained.Conclusion: Te present study allowed identifcation of mutations clustered in exons 3 and 8 of the PTPN11 gene in a MoroccanNoonan syndrome cohort and enabled us to give appropriate genetic counseling to the mutation-positive patients.

📌 3 Maddede Bu Makale

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Amaç & Hipotez:Background/aim: Noonan syndrome is an autosomal dominant disorder with an incidence of 1/1000 2500.
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Temel Bulgular & Veri:It results from protein-tyrosine phosphatase, nonreceptor type 11 (PTPN11 ) mutations in roughly 50% of cases.
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Sonuç & Katkı:However, we found signifcant diferences in themutation rate of exon 8 between one Japanese cohort and some populations, which requires more investigations to be explained.Conclusion: Te present study allowed identifcation of mutations clustered in exons 3 and 8 of the PTPN11 gene in a MoroccanNoonan syndrome cohort and enabled us to give appropriate genetic counseling to the mutation-positive patients.
🔬Tür:Araştırma Makalesi
📍Kapsam:Genişletilmiş Akademik Örneklem
⚙️Değişkenler:Alan Parametreleri

Abstract

Background/aim: Noonan syndrome is an autosomal dominant disorder with an incidence of 1/1000 2500. It results from protein-tyrosine phosphatase, nonreceptor type 11 (PTPN11 ) mutations in roughly 50% of cases. Mutational screening of PTPN11 has beencarried out in diferent populations. Tus, the aim of this study was to screen, for the frst time, PTPN11 mutations in a series ofMoroccan Noonan syndrome patients.Materials and methods: We used bidirectional sequencing of exons 3 and 8, considered as PTPN11 mutation hot spots, and thencompared the rate of mutational events of these exons between diferent populations using chi-square and Fisher s exact tests.Results: We detected 3 heterozygous mutations (Asp61Gly, Tyr63Cys, and Asn308Ser) in 4 individuals of 16 sporadic patients (25%).Te rate of mutation in our cohort did not difer from that of other populations. However, we found signifcant diferences in themutation rate of exon 8 between one Japanese cohort and some populations, which requires more investigations to be explained.Conclusion: Te present study allowed identifcation of mutations clustered in exons 3 and 8 of the PTPN11 gene in a MoroccanNoonan syndrome cohort and enabled us to give appropriate genetic counseling to the mutation-positive patients.

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Bu Makaleye Atıf Yap

BOUCHIKHI, I. E., SAMRI, I., IRAQUI, M. H., TRHANINT, S., BOUGUENOUCH, L., SAYEL, H., HIDA, M., ATMANI, S., OULDIM, K. (2022). Te frst PTPN11 mutations in hotspot exons reported in Moroccan children with Noonan syndrome and comparison of mutation rate to previous studies. Turkish Journal of Medical Sciences, Cilt: 45 - Sayı: 2, 306–312. https://ajindex.com/articles/610944

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