| Titre : | CLINICAL AND MOLECULAR STUDY OF THE KRAS GENE IN NOONAN SYNDROME: ABOUT A SERIES OF 54 CASES | | Type de document : | thèse | | Auteurs : | EL MAKHZEN Nada, Auteur | | Année de publication : | 2021 | | Langues : | Anglais (eng) | | Mots-clés : | Noonan syndrome Kras pulmonary stenosis short stature mental retardation | | Résumé : | Noonan syndrome (NS) is an autosomal dominant genetic disorder. However, most cases are sporadic. It affects 1/1000 - 1/2500 individuals. It is characterized by facial dysmorphia, cardiac malformation, small size, and mental retardation. The diagnosis is essentially clinical. The identified genetic mutations are involved in the RAS / MAPK signal transduction pathway and currently account for 60% of NS cases. The first gene described was PTPN11.
Our report highlighted a study of 54 Moroccan patients with Noonan syndrome and was tested negatively of the PTPN11 gene at the Genetics and Oncogenetics Unit of the Hassan II University Hospital Center in Fez. 90% of our cohort, occurred sporadically and only in 10%, there was the first degree of consanguinity. The manifestations that led to the diagnosis were characteristic facies in 100% of cases, cardiopathy of pulmonary stenosis type in 61% of cases, cryptorchidism in 5%, short stature in 36%, and mental retardation in 20% of cases.
In the light of these clinical observations, our study focused on looking for mutations in exons 2 and 3 of the Kras gene by simplex PCR followed by sanger sequencing for our cohort. This study revealed the absence of mutations in exons 2 and 3 of the Kras gene in our cohort.
| | Numéro (Thèse ou Mémoire) : | MM0232021 | | Président : | IBRAHIMI Azeddine | | Directeur : | BOUGUENOUCH Laila ; ABBASSI Meriame Co-Supervisor |
CLINICAL AND MOLECULAR STUDY OF THE KRAS GENE IN NOONAN SYNDROME: ABOUT A SERIES OF 54 CASES [thèse] / EL MAKHZEN Nada, Auteur . - 2021. Langues : Anglais ( eng) | Mots-clés : | Noonan syndrome Kras pulmonary stenosis short stature mental retardation | | Résumé : | Noonan syndrome (NS) is an autosomal dominant genetic disorder. However, most cases are sporadic. It affects 1/1000 - 1/2500 individuals. It is characterized by facial dysmorphia, cardiac malformation, small size, and mental retardation. The diagnosis is essentially clinical. The identified genetic mutations are involved in the RAS / MAPK signal transduction pathway and currently account for 60% of NS cases. The first gene described was PTPN11.
Our report highlighted a study of 54 Moroccan patients with Noonan syndrome and was tested negatively of the PTPN11 gene at the Genetics and Oncogenetics Unit of the Hassan II University Hospital Center in Fez. 90% of our cohort, occurred sporadically and only in 10%, there was the first degree of consanguinity. The manifestations that led to the diagnosis were characteristic facies in 100% of cases, cardiopathy of pulmonary stenosis type in 61% of cases, cryptorchidism in 5%, short stature in 36%, and mental retardation in 20% of cases.
In the light of these clinical observations, our study focused on looking for mutations in exons 2 and 3 of the Kras gene by simplex PCR followed by sanger sequencing for our cohort. This study revealed the absence of mutations in exons 2 and 3 of the Kras gene in our cohort.
| | Numéro (Thèse ou Mémoire) : | MM0232021 | | Président : | IBRAHIMI Azeddine | | Directeur : | BOUGUENOUCH Laila ; ABBASSI Meriame Co-Supervisor |
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