A recurrent deep-intronic splicing CF mutation emphasizes the importance of mRNA studies in clinical practice.
J Cyst Fibros
; 10(6): 479-82, 2011 Dec.
Article
en En
| MEDLINE
| ID: mdl-21783433
ABSTRACT
BACKGROUND:
The identification by CFTR mRNA studies of a new deep-intronic splicing mutation, c.870-1113_1110delGAAT, in one patient of our series with mild CF symptoms and in three CF patients of an Italian study, led us to evaluate the mutation frequency and phenotype/genotype correlations.METHODS:
266 patients with CF and related disorders and having at least one undetected mutation, were tested at the gDNA level in three French reference laboratories.RESULTS:
In total, the mutation was found in 13 unrelated patients (5% of those already carrying a mutation) plus 4 siblings, including one homozygote and 12 heterozygotes having a severe CF mutation. The sweat test was positive in 10/14 documented cases, the diagnosis was delayed after 20 years in 9/15 and pancreatic insufficiency was present in 5/16.CONCLUSION:
c.870-1113_1110delGAAT should be considered as CF-causing with phenotype variability and overall delayed diagnosis. Its frequency highlights the potential of mRNA studies.
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
ARN Mensajero
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Intrones
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Fibrosis Quística
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Mutación
Tipo de estudio:
Diagnostic_studies
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Prognostic_studies
Límite:
Adolescent
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Adult
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Child
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Child, preschool
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Female
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Humans
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Male
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Middle aged
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Newborn
Idioma:
En
Revista:
J Cyst Fibros
Año:
2011
Tipo del documento:
Article
País de afiliación:
Francia