The first PTPN11 mutations in hotspot exons reported in Moroccan children with Noonan syndrome and comparison of mutation rate to the previous studies

IHSSANE EL BOUCHIKHI; IMANE SAMRI; MOHAMMED IRAQUI HOUSSAINI; SAAID TRHANINT; LAILA BOUGUENOUCH; HANANE SAYEL; MOUSTAPHA HIDA; SAMIR ATMANI; KARIM OULDIM

Makale detayları

The first PTPN11 mutations in hotspot exons reported in Moroccan children with Noonan syndrome and comparison of mutation rate to the previous studies

Yazarlar:

IHSSANE EL BOUCHIKHI | IMANE SAMRI | MOHAMMED IRAQUI HOUSSAINI | SAAID TRHANINT | LAILA BOUGUENOUCH | HANANE SAYEL | MOUSTAPHA HIDA | SAMIR ATMANI | KARIM OULDIM

Yayıncı:

TUBITAK

Dergi:

Turkish Journal of Medical Sciences 2015 Vol.45 Issue 2, pp.306-312

Belge Tipi:

Makale

Yayın Tarihi:

8/2015

Belge Dili:

Türkçe

Document ID (Org No.):

2000752768

Sıklık:

İki Aylık

eISSN:

1303-6165

pISSN:

1300-0144

Anahtar kelimeler:

Özet:

 

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 been carried out in different populations. Thus, the aim of this study was to screen, for the first time, PTPN11 mutations in a series of Moroccan Noonan syndrome patients.  Materials and methods: We used bidirectional sequencing of exons 3 and 8, considered as PTPN11 mutation hot spots, and then compared the rate of mutational events of these exons between different 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%). The rate of mutation in our cohort did not differ from that of other populations. However, we found significant differences in the mutation rate of exon 8 between one Japanese cohort and some populations, which requires more investigations to be explained.  Conclusion: The present study allowed identification of mutations clustered in exons 3 and 8 of the PTPN11 gene in a Moroccan Noonan syndrome cohort and enabled us to give appropriate genetic counseling to the mutation-positive patients.

 

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 been carried out in different populations. Thus, the aim of this study was to screen, for the first time, PTPN11 mutations in a series of Moroccan Noonan syndrome patients.  Materials and methods: We used bidirectional sequencing of exons 3 and 8, considered as PTPN11 mutation hot spots, and then compared the rate of mutational events of these exons between different 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%). The rate of mutation in our cohort did not differ from that of other populations. However, we found significant differences in the mutation rate of exon 8 between one Japanese cohort and some populations, which requires more investigations to be explained.  Conclusion: The present study allowed identification of mutations clustered in exons 3 and 8 of the PTPN11 gene in a Moroccan Noonan syndrome cohort and enabled us to give appropriate genetic counseling to the mutation-positive patients.

Makale detayları

The first PTPN11 mutations in hotspot exons reported in Moroccan children with Noonan syndrome and comparison of mutation rate to the previous studies

Yazarlar:

IHSSANE EL BOUCHIKHI | IMANE SAMRI | MOHAMMED IRAQUI HOUSSAINI | SAAID TRHANINT | LAILA BOUGUENOUCH | HANANE SAYEL | MOUSTAPHA HIDA | SAMIR ATMANI | KARIM OULDIM

Yayıncı:

TUBITAK

Dergi:

Turkish Journal of Medical Sciences 2015 Vol.45 Issue 2, pp.306-312

Belge Tipi:

Makale

Yayın Tarihi:

8/2015

Belge Dili:

Türkçe

Document ID (Org No.):

2000752768

Sıklık:

İki Aylık

eISSN:

1303-6165

pISSN:

1300-0144

Noonan syndrome

PTPN11

mutation analysis

SHP-2

mutation rate comparison

Sayı

Makale detayları

The first PTPN11 mutations in hotspot exons reported in Moroccan children with Noonan syndrome and comparison of mutation rate to the previous studies

Yazarlar: IHSSANE EL BOUCHIKHI | IMANE SAMRI | MOHAMMED IRAQUI HOUSSAINI | SAAID TRHANINT | LAILA BOUGUENOUCH | HANANE SAYEL | MOUSTAPHA HIDA | SAMIR ATMANI | KARIM OULDIM

Yayıncı: TUBITAK

Dergi: Turkish Journal of Medical Sciences 2015 Vol.45 Issue 2, pp.306-312

Belge Tipi: Makale

Yayın Tarihi: 8/2015

Belge Dili: Türkçe

Document ID (Org No.): 2000752768

Sıklık: İki Aylık

eISSN: 1303-6165

pISSN: 1300-0144

Noonan syndrome

PTPN11

mutation analysis

SHP-2

mutation rate comparison

Sayı

Yazarlar:

IHSSANE EL BOUCHIKHI | IMANE SAMRI | MOHAMMED IRAQUI HOUSSAINI | SAAID TRHANINT | LAILA BOUGUENOUCH | HANANE SAYEL | MOUSTAPHA HIDA | SAMIR ATMANI | KARIM OULDIM

Yayıncı:

TUBITAK

Dergi:

Turkish Journal of Medical Sciences 2015 Vol.45 Issue 2, pp.306-312

Belge Tipi:

Makale

Yayın Tarihi:

8/2015

Belge Dili:

Türkçe

Document ID (Org No.):

2000752768

Sıklık:

İki Aylık

eISSN:

1303-6165

pISSN:

1300-0144