Identification of a D579G homozygote cystic fibrosis patient with pancreatic sufficiency and minor lung involvement

✍ Scribed by Luigi Picci; Marilena Cameran; Paola Olante; Franco Zacchello; Maurizio Scarpa

• Publisher: John Wiley and Sons
• Year: 1999
• Tongue: English
• Weight: 95 KB
• Volume: 13
• Category: Article
• ISSN: 1059-7794
• DOI: 10.1002/(sici)1098-1004(1999)13:2<173::aid-humu20>3.0.co;2-3

✦ Synopsis

Here we describe the identification of an italian patient homozygote for the D579G mutation affected by a mild form of Cystic Fibrosis with pancreatic sufficiency, minor lung involvement and marked viscosity of the cervical mucous. The D579G mutation causes an A1868G transition, a substitution of an aspartic acid to a glycine residue, generating an important amino acid change (charged to hydrophobic) in the nucleotide-binding domain (NBD). The mutation was first described by Brancolini et al. (1995) on two pancreatic sufficient CF patients, compound heterozygotes for ∆ ∆508F. Patients were from Southern Italy (Puglia) as the D579G homozygote one, who is a 30 years old woman from Taranto (Puglia), daughter of second cousins born in Bari (Puglia). The identification of a homozygote D579G patient might confirm that this mutation does correlate with pancreatic sufficiency and a mild pulmonary phenotype.