View Full Version : Question on L183i also known as the c.547C>A - Cystic Fibrosis mutation

03-19-2018, 10:05 PM
Hello All

Very recently my daughter who will be 8 years of age in June was diagnosed with Cystic Fibrosis at Boston Children Hospital based on the following

1. Sweat test result 62 mmol/L
2. Mild respiratory symptoms

Subsequent to this the doctor ordered a Genetic testing and the result came back as her having a Variant of unknown significance on one of the genes The other gene had no mutation. the variant identified was p.L183I also known as the c.547C>A. This was very interesting because the mutation was only on one gene and nothing on the other

Apart from the mild respiratory problems my daughter seems to be very healthy she has a very good height to weight ratio 4 feet 2 inches and a weight of 27.6 kg also her stool Elastase test came out to be a bit low but not low to require enzymes

As we continue to investigate this further, is any one on this forum aware of this mutation?

The doctor has called for a repeat sweat test on 04/05 for my daughter it would be nice to hear your thoughts on my questions

Thanks in advance

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