Ihssane EL BOUCHIKHI, Imane SAMRI, Mohammed HOUSSAINI IRAQUI, Saaid TRHANINT, Laila BOUGUENOUCH, Hanane SAYEL, Moustapha HIDA, Samir ATMANI, Karim OULDIM

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

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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