ABCC7 p.Gly1247*
| ClinVar: |
c.3739G>C
,
p.Gly1247Arg
?
, not provided
|
| CF databases: |
c.3739G>A
,
p.Gly1247Arg
(CFTR1)
D
, Patient was from Brazil and is of Afro-American origin. The G1247R mutation was detected by DGGE and direct sequencing. The patient is homozygous for the mutation, with PI and mild lung disease.
c.3739G>C , p.Gly1247Arg (CFTR1) ? , This mutation was identified on one Italian CF chromosome, applying a protocol of extended mutational search (5?-flanking region, all the exons and adjacent intronic regions) by direct sequencing. No other mutations were found on the same allele. The mutation W1282X was found on the other allele. The G1247R(GtoC) mutation was not found in 232 alleles from the general population. This mutation may produce anomalous genetic characterization by PCR/OLA/SCS 31 mutation assay, interfering with exon 20 amplification or OLA probing. |
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[hide] Cystic Fibrosis Presenting with Neonatal Cholestas... Indian J Pediatr. 2012 Jul 15. Eminoglu TF, Polat E, Gokce S, Ezgu FS, Senel S, Apaydin S
Cystic Fibrosis Presenting with Neonatal Cholestasis Simulating Biliary Atresia in a Patient with a Novel Mutation.
Indian J Pediatr. 2012 Jul 15., [PMID:22798282]
Abstract [show]
Neonatal cholestasis is a rare presenting feature of cystic fibrosis which usually cannot be differentiated from other types of cholestasis. Herein, the authors report a 63 d-old boy with cystic fibrosis presenting with neonatal cholestasis mimicking biliary atresia. A new mutation in CFTR gene resulting in severe phenotype has been described. The cystic fibrosis patients with c.3871 G > T mutation may have acholic gaita mimicking biliary atresia in the absence of insipissated bile with minimal histologic findings in the liver.
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No. Sentence Comment
28 DNA sequence analysis of the exons and exon-intron boundaries of the CFTR gene revealed a homozygous nonsense mutation, c.3871 G>T (p.G1247X), in exon 23 (Fig. 2).
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ABCC7 p.Gly1247* 22798282:28:134
status: NEW51 Most of the cases [5, 9] had moderate to severe focal fibrosis, variable portal inflammation, and some degree of Fig. 1 Hepatocellular vacuolar degeneration and canalicular cholestasis (HEx400) Fig. 2 The c.3871 G>T change leading to p.G1247X mutation in the patient Indian J Pediatr ductular proliferation in liver biopsy.
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ABCC7 p.Gly1247* 22798282:51:236
status: NEW