PMID- 10094564
OWN - NLM
STAT- MEDLINE
DCOM- 19990323
LR  - 20131121
IS  - 1059-7794 (Print)
IS  - 1059-7794 (Linking)
VI  - 13
IP  - 2
DP  - 1999
TI  - Identification of a D579G homozygote cystic fibrosis patient with pancreatic
      sufficiency and minor lung involvement. Mutations in brief no. 221. Online.
PG  - 173
AB  - 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 delta508F. 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.
FAU - Picci, L
AU  - Picci L
AD  - Department of Pediatrics, University of Padova, Italy. gpicci@child.pedi.unipd.it
FAU - Cameran, M
AU  - Cameran M
FAU - Olante, P
AU  - Olante P
FAU - Zacchello, F
AU  - Zacchello F
FAU - Scarpa, M
AU  - Scarpa M
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - United States
TA  - Hum Mutat
JT  - Human mutation
JID - 9215429
RN  - 30KYC7MIAI (Aspartic Acid)
RN  - TE7660XO1C (Glycine)
SB  - IM
MH  - Adult
MH  - Amino Acid Substitution/genetics
MH  - Aspartic Acid/genetics
MH  - Cystic Fibrosis/*genetics
MH  - Exocrine Pancreatic Insufficiency/*genetics
MH  - Female
MH  - Glycine/genetics
MH  - *Homozygote
MH  - Humans
MH  - Lung/pathology
EDAT- 1999/03/27 03:12
MHDA- 2000/06/22 10:00
CRDT- 1999/03/27 03:12
PHST- 1999/03/27 03:12 [pubmed]
PHST- 2000/06/22 10:00 [medline]
PHST- 1999/03/27 03:12 [entrez]
AID - 10.1002/(SICI)1098-1004(1999)13:2<173::AID-HUMU19>3.0.CO;2-E [pii]
AID - 10.1002/(SICI)1098-1004(1999)13:2<173::AID-HUMU20>3.0.CO;2-3 [doi]
PST - ppublish
SO  - Hum Mutat. 1999;13(2):173. doi:
      10.1002/(SICI)1098-1004(1999)13:2<173::AID-HUMU20>3.0.CO;2-3.