p.R709X heterozygous
Hi - does being heterozygous with p.R709X confer CF - there are no other mutations, deletions, duplications per Ambry Genetic CF amplication and del/dup sequencing results? Kindly advise.
p.R709X heterozygous
Results from gene sequencing and amplification for our child showed one mutation: p.R709X. No other mutations, or variants of unknown significance or gross deletions or duplications were noted. What phenotypic expression does the heterozygosity for p.R709X bring about? Is my child a carrier. ...
R668C and M348K mutations
Good morning, my husband has the R668C mutation (he is carrying the atypical form of CF) and I have the variation M348K. My cousin has the mutations M348K and S912X and he is healthy, but his son has the classical form of CF with the mutations delta508, S912X, M348K. Which are the risks that ...
My one year daughter was diagnosed with cf a year ago because of malnutrition, sweat test borderline and single Df508 (ex 11 CFTR). Direct sequencing test revealed another absolutely new mutation - p.Phe1078Ile (or c.3232t>a) in exon 20 cftr - which has never been described in any database before. ...
delta F508 and G542X
My son has delta F508 and G542X .Can you tell me anything about children with cf with the above genes and how they are effected. Many thanks
394delTT and Ataluren
My two children (aged 6 months and 2.5 years old) have cystic fibrosis and one of their mutations is the class I frameshift mutation 394delTT (a.k.a., the scandinavian mutation). 394delTT encodes a stop codon in axon 4. Is it possible that Ataluren (by supressing the stop codon) could enable ...
Carriers screening
Dear Expert, In carriers screening, what is the preferred/recommended action when one of the parents has a known mutation that causes CF, and the other parent is negative to the standard 10 CF mutations panel (of his country). Please note, the mutation spectrum of the ethnic origin of the ...
VX770 and R347P
Dear Team, I refer to the question you have already (partly) answered before. I think the more concrete questions is: if VX770 will help R117H - how likely is it that it can work on R347P (or any other class 4 mutation which is not a gating/class 3 mutation)? It is difficult to understand the ...
Dear Expert, I have a 6 years old boy with 3121-1G->A and N1303K. He is PI (born with meconium ileus), and with regards to the lung disease he is not symptomatic. Can this genetics predict the severity of his lung disease? Can you know the molecular outcome of the 3121-1G->A mutation? Is ...
Aberrant Splicing Mutations and Ataluren
My 14 year old daughter has the two mutations DF508 and 621 + 1G > T. It is my understanding that the 621 + 1G > T mutation causes aberrant splicing of mRNA. How is that different from a nonsense mutation? Currently, I see that Ataluren trials are targeting nonsense mutations in Class I.  ...
<<  1 | 2 | 3 | 4 | 5 | 6 | 7 >  >>