Mutation Details for c.743+1G>A
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cDNA Name
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c.743+1G>A
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Exon or Intron
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intron 6
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Legacy Exon or Intron
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intron 6a
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875+1G->A
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Other Details
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This mutation was detected by DGGE in intron 6 of the CFTR gene. This was followed by direct sequencing in one out of 59 non-[delta]F508 CF chromosomes of Portugese origin. 875+1G->A was found neither in 28 normal chromosomes nor in 31 [delta]F508 CF chromosomes.
The patient, a 14 year old girl who is a compound heterozygote for 875+1G->A and [delta]F508, was diagnosed at the age of 9. Symptoms include severe pancreatic insufficiency, growth retardation and pulmonary disease with Pseudomonas aeruginosa colonization since the age of 13.
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Contributors
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Duarte A,
Barreto C,
Lavinha J
1994-06-25
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Institute
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Instituto Nacional de Saude
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Submitted Phenotype Details
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The mutation was found in a 21 years old female, diagnosed at 9 years of age with typical CF. She is PS, has sweat chloride 108 mmol/l and FEV1 22.2%. She carries deltaF508 on the other allele. (pers. corr.Duarte)
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Reference
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Duarte et al. (NL#63)
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