Identification of early interstitial lung disease in an individual with genetic variations in ABCA3 and SFTPC
PF Crossno, VV Polosukhin, TS Blackwell, JE Johnson… - Chest, 2010 - Elsevier
A man with usual interstitial pneumonia (age of onset 58 years) was previously found to
have an Ile73Thr (I73T) surfactant protein C (SFTPC) mutation. Genomic DNA from the
individual and two daughters (aged 39 and 43 years) was sequenced for the I73T mutation
and variations in ATP-binding cassette A3 (ABCA3). All three had the I73T SFTPC mutation.
The father and one daughter (aged 39 years) also had a transversion encoding an
Asp123Asn (D123N) substitution in ABCA3. The daughters were evaluated by pulmonary …
have an Ile73Thr (I73T) surfactant protein C (SFTPC) mutation. Genomic DNA from the
individual and two daughters (aged 39 and 43 years) was sequenced for the I73T mutation
and variations in ATP-binding cassette A3 (ABCA3). All three had the I73T SFTPC mutation.
The father and one daughter (aged 39 years) also had a transversion encoding an
Asp123Asn (D123N) substitution in ABCA3. The daughters were evaluated by pulmonary …
