ABCMdb

PMID: 18676185

Rana-Diez P, Colon C, Alonso-Fernandez JR, Solar A, Barros-Tizon JC, Barros-Casas D, Sirvent J, Carracedo A, Barros F
Three novel mutations in the CFTR gene identified in Galician patients.
J Cyst Fibros. 2008 Nov;7(6):520-2. Epub 2008 Aug 3., [PubMed]

Sentences

No. Mutations Sentence Comment

1 ABCC7 p.Ser1045Tyr In the first case, a patient homozygous for a novel S1045Y mutation died due to pulmonary problems. Login to comment 2 ABCC7 p.Met595Ile ABCC7 p.Ala107Val In the other two cases, both heterozygous for novel mutations combined with the F508del mutation, clinical symptoms were different depending on the mutation, detected as M595I and A107V. Login to comment 12 ABCC7 p.Ser1045Tyr ABCC7 p.Met595Ile ABCC7 p.Ala107Val From these analyses we discovered three mutations in the CFTR gene not previously described in the literature: one homozygous S1045Y and two compound heterozygous, A107V and M595I, both combined with the F508del mutation. Login to comment 18 ABCC7 p.Ser1045Tyr 3. Case reports 3.1. Case 1: patient homozygous for mutation S1045Y A female born in 1972, nulliparous, diagnosed with allergic bronchial asthma at her local primary healthcare centre with allergic sensibility to dust mites, gramineous pollen and Journal of Cystic Fibrosis 7 (2008) 520-522 www.elsevier.com/locate/jcf ⁎ Corresponding author. Login to comment 39 ABCC7 p.Ser1045Tyr In this patient we found amino acid change S1045Y: serine (TCT) to tyrosine (TAT) at codon 1045 in exon 17A of CFTR. Login to comment 42 ABCC7 p.Met595Ile 3.2. Case 2: patient M595I/F508del A male born in 1991, the first live birth (two previous stillbirths) with no neonatal pathology. Login to comment 49 ABCC7 p.Met595Ile In this patient we found amino acid change M595I: methionine (ATG) to isoleucine (ATA) at codon 595 in exon 13 of CFTR. Login to comment 51 ABCC7 p.Met595Ile The patient we describe was found to have a F508del mutation in combination with M595I. Login to comment 52 ABCC7 p.Ala107Val 3.3. Case 3: patient A107V/F508del A male born in 1981, diagnosed with clinical symptoms compatible with cystic fibrosis at 8 years old, with a F508del mutation detected at that stage. Login to comment 64 ABCC7 p.Ala107Val In this patient we found an amino acid change A107V from alanine (GCT) to valine (GTT) at codon 107 in exon 4 of the CFTR. Login to comment 68 ABCC7 p.Ser1045Tyr ABCC7 p.Met595Ile ABCC7 p.Ala107Val To predict the possible impact Table 1 New CFTR mutations found in Galician patients and bioinformatic predictions AA change Exon Polyphena PSICb PMUTc Reliabilityd S1045Y 17A Possibly damaging 1.864 Pathological 7 M595I 13 Benign 1.310 Neutral 3 A107V 4 Possibly damaging 1.602 Pathological 2 a Polyphen prediction about the impact of the amino acid substitution on the function of the protein. Login to comment 75 ABCC7 p.Ser1045Tyr The patient homozygous for mutation S1045Y resulted in an amino acid change from serine to tyrosine that appeared to be the cause of a serious cystic fibrosis condition with multiorganic repercussions andfatalconsequences for thepatient. Login to comment 80 ABCC7 p.Met595Ile The patient with genotype M595I/F508del did not show severe respiratory symptoms. Login to comment 84 ABCC7 p.Ala107Val In the last case, a patient with the A107V/F508del genotype showed important pulmonary problems. Login to comment 95 ABCC7 p.Ser1045Tyr The patient, homozygous for mutation S1045Y, probably would have been benefit from an early antibiotic treatment avoiding the severe lung problems that finally developed. Login to comment