RGD Reference Report - High heterogeneity for cystic fibrosis in Spanish families: 75 mutations account for 90% of chromosomes. - Rat Genome Database

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High heterogeneity for cystic fibrosis in Spanish families: 75 mutations account for 90% of chromosomes.

Authors: Casals, T  Ramos, MD  Gimenez, J  Larriba, S  Nunes, V  Estivill, X 
Citation: Casals T, etal., Hum Genet. 1997 Dec;101(3):365-70.
RGD ID: 4140464
Pubmed: PMID:9439669   (View Abstract at PubMed)

We have analyzed 640 Spanish cystic fibrosis (CF) families for mutations in the CFTR gene by direct mutation analysis, microsatellite haplotypes, denaturing gradient gel electrophoresis, single-strand conformation analysis and direct sequencing. Seventy-five mutations account for 90.2% of CF chromosomes. Among these we have detected seven novel CFTR mutations, including four missense (G85V, T582R, R851L and F1074L), two nonsense (E692X and Q1281X) and one splice site mutation (711+3A-->T). Three variants, two in intronic regions (406-112A/T and 3850-129T/C) and one in the coding region (741C/T) were also identified. Mutations G85V, T582R, R851L, E692X and Q1281X are severe, with lung and pancreatic involvement; 711+3A-->T could be responsible for a pancreatic sufficiency/insufficiency variable phenotype; and F1074L was associated with a mild phenotype. These data demonstrate the highest molecular heterogeneity reported so far in CF, indicating that a wide mutation screening is necessary to characterize 90% of the Spanish CF alleles.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
cystic fibrosis  IAGP 4140464DNA:mutations: :RGD 
cystic fibrosis  ISOCFTR (Homo sapiens)4140464; 4140464DNA:mutations: :RGD 

Objects Annotated

Genes (Rattus norvegicus)
Cftr  (CF transmembrane conductance regulator)

Genes (Mus musculus)
Cftr  (cystic fibrosis transmembrane conductance regulator)

Genes (Homo sapiens)
CFTR  (CF transmembrane conductance regulator)


Additional Information