Identification of a novel mutation (S13F) in the CFTR gene in a CF patient of Sardinian origin.
In this paper, we describe a novel CF mutation consisting in a C-->T substitution at nucleotide 170 in exon 1 of CFTR gene, converting a serine residue into phenylalanine at position 12 (S13F) of the CFTR protein. This mutation was detected in a single patient of Sardinian descent in compound heterozygosity with T338I, who presented at 9 years of age with hyponatremic dehydration associated with hypochloremia, hypokaliemia and metabolic alkalosis. Sweat chloride values were 120 mmol/l. Now the patient is 11 years old and has not shown so far any pancreatic or lung involvement. The serine to phenylalanine substitution is a non-conservative change, replacing a non polar for a polar amino acid residue and therefore is most likely a disease-causing mutation.
Leoni
G B
GB
Ospedale Regionale per le Microcitemie-Azienda U.S.L., Cagliari, Italy.
Pitzalis
S
S
Tonelli
R
R
Cao
A
A
D002648:Child; D003550:Cystic Fibrosis / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D005091:Exons; D006579:Heterozygote; D006801:Humans; D007558:Italy; D010641:Phenotype; D017354:Point Mutation
C505032:CFTR protein, human; D019005:Cystic Fibrosis Transmembrane Conductance Regulator