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Identification of a D579G homozygote cystic fibrosis patient with pancreatic sufficiency and minor lung involvement
Author(s) -
Picci Luigi,
Cameran Marilena,
Olante Paola,
Zacchello Franco,
Scarpa Maurizio
Publication year - 1999
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/(sici)1098-1004(1999)13:2<173::aid-humu20>3.0.co;2-3
Subject(s) - cystic fibrosis , mutation , heterozygote advantage , biology , compound heterozygosity , lung , phenotype , genotype , aspartic acid , daughter , pancreatic disease , medicine , amino acid , microbiology and biotechnology , genetics , gastroenterology , pancreas , endocrinology , gene , evolutionary biology
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 Δ508F. 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. © 1998 Wiley‐Liss, Inc.