From Noonan syndrome to neurofibromatosis / Noonan syndrome? Insights from Polish experience. P - 28
PBN-AR
Instytucja
Instytut Matki i Dziecka
Książka
Tytuł książki
XVII Konferencja Naukowo-Szkoleniowa pt. „Chirurgia onkologiczna wieku rozwojowego. Spójrzmy wstecz, abyśmy wiedzieli, dokąd iść…”, Warszawa, Polska, 26–27 listopada 2015 r: program
Data publikacji
2015
ISBN
brak
Wydawca
Instytut Matki i Dziecka, Warszawa, Polska
Publikacja
Główny język publikacji
angielski
Tytuł rozdziału
From Noonan syndrome to neurofibromatosis / Noonan syndrome? Insights from Polish experience. P - 28
Rok publikacji
2014
Strony (od-do)
90-90
Numer rozdziału
Link do pełnego tekstu
Identyfikator DOI
Liczba arkuszy
0,1
Hasło encyklopedyczne
Konferencja
Indeksowana w Scopus
nie
Indeksowana w Web of Science Core Collection
nie
Liczba cytowań z Web of Science Core Collection
Nazwa konferencji (skrócona)
16th European Neurofibromatosis Meeting
Nazwa konferencji
16th European Neurofibromatosis Meeting, September 4-7, 2014, Barcelona, Spain
Początek konferencji
2014-09-04
Koniec konferencji
2014-09-07
Lokalizacja konferencji
Barcelona
Kraj konferencji
ES
Lista innych baz czasopism i abstraktów w których była indeksowana
Streszczenia
Język
angielski
Treść
Background and aims. Both Noonan syndrome (NS) and neurofi bromatosis type I (NF1) belong to the same group of autosomal dominant disorders called RASopathies and might have overlapping clinical characteristics. Genes that mutations are found in NS and NF1 patients encode proteins that constitute or regulate RAS/MAPK signaling pathway. The primary aim of our studies was the identifi cation of causative genes responsible for the NS phenotype. Methods. Since 2003, 227 patients with clinical suspicion of NS were recruited by clinical geneticists in outpatient clinics located throughout the Poland. All patients fulfi lled the inclusion criteria which were the presence of specifi c dysmorphic features and 3 of 4 following symptoms: short stature (height below 10th centile), thoracic deformities or pterygium coli, cryptorchidism or congenital heart defect. The molecular analysis was based on classic Sanger sequencing (PTPN11, RAF1, SOS1 and NF1 in selected cases), whole exome sequencing (WES, Illumina workfl ow) in 42 selected cases and arrayCGH. Results and Conclusion. High-throughput molecular methods (arrayCGH and WES) applied for the molecular analysis of selected NS patients revealed the presence of gross deletion of 4,5Mbp encompassing NF1 gene in 1 patient (g.28149158-?_32817373+?del) and point mutations in two patients (c.3104T>G, p.Met1035Arg and c.7668T>A, p.Tyr2556X). The clinical analysis had shown that these patients besides dysmorphic features suggesting NS diagnosis, had CAL spots, but no neurofi bromas. Therefore, we have selected from our NS database patients with CAL spots (20 patients) and found that the pigmentary changes were present in 5 patients with PTPN11, 1 patient with SHOC2 and 1 with RIT1 mutation. We further analyzed selected exons of NF1 gene and found potentially pathogenic variants in 4 patients: a missense change c.5477C>T, p.Pro1826Leu (de novo mutation in twin brothers) and probably splicing mutation c.2325+6C>T in 2 sisters. None of the patients with the NF1 pathogenic variant had mutation in PTPN11. To summarize, the molecular analysis of NF1 gene should be considered in Noonan syndrome patients, especially those with CAL spots. The work was supported from the National Science Centre (UMO-2011/01/D/NZ5/01347).
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Treść
Cechy publikacji
abstract
Inne
System-identifier
PX-5847fed982ce363ee74cb373