ABCC7 p.Asp110Asn
| ClinVar: |
c.328G>C
,
p.Asp110His
D
, Pathogenic
c.328G>T , p.Asp110Tyr ? , not provided c.330C>A , p.Asp110Glu ? , not provided |
| CF databases: |
c.328G>C
,
p.Asp110His
D
, CF-causing ; CFTR1:
c.330C>A , p.Asp110Glu (CFTR1) ? , This mutation was detected by DGGE analysis followed by direct sequencing in two CF infants, a girl carrying [delta]F508 in the other chromosome and a boy carrying G542X in the other chromosome, both of Southern Italian origin (Sicilia region). It was never found in other 800 Italian CF chromosomes and in 100 control chromosomes from Italian population. The girl was diagnosed because of positive neonatal screening (persistent neonatal hypertrypsinemia), sweat chloride was 42, 57, and 68 mEq/l on repeated tests. Delayed meconium emission. No respiratory symptoms, pancreatic sufficiency and normal growth at 6 months. The boy presented at 6 months because of metabolic alkalemic diselectrolitemia and bronchiolitis. Neonatal screening was negative. Sweat chloride was 80, 70, 59 and 88 mEq/l on repeated occasions. At 2.5yrs, he is pancreatic sufficient, his growth is in the normal range and he presents no respiratory problems. This mutation was also reported by Aquino et al. (22/02/2000): It abolishes a Scrf I site. This substitution involves a quite conserved residue among species (N110 in the squale), in an intracellular loop. It doesn't affect the charge of the CFTR protein. It was found in an Italian CF patient with pancreatic sufficiency and bearing [delta]F508 on the other chromosome. No other mutation was found after analysis of 14 exons. The deleterious effect of D110E remains to be demonstrated. c.328G>T , p.Asp110Tyr (CFTR1) D , This mutation was found by SSCA and direct DNA sequencing in a CBAVD patient. (reported in Human Reproduction (2000) 15, 1476-1483). c.328G>A , p.Asp110Asn (CFTR1) ? , |
| Predicted by SNAP2: | A: D (91%), C: D (91%), E: D (85%), F: D (95%), G: D (95%), H: D (63%), I: D (95%), K: D (95%), L: D (95%), M: D (95%), N: D (85%), P: D (95%), Q: D (95%), R: D (95%), S: D (85%), T: D (95%), V: D (95%), W: D (95%), Y: D (95%), |
| Predicted by PROVEAN: | A: N, C: D, E: N, F: N, G: N, H: N, I: N, K: N, L: N, M: N, N: N, P: D, Q: N, R: N, S: N, T: N, V: N, W: D, Y: N, |
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[hide] Screening for cystic fibrosis in newborn infants: ... J Med Screen. 2002;9(2):60-3. Corbetta C, Seia M, Bassotti A, Ambrosioni A, Giunta A, Padoan R
Screening for cystic fibrosis in newborn infants: results of a pilot programme based on a two tier protocol (IRT/DNA/IRT) in the Italian population.
J Med Screen. 2002;9(2):60-3., [PMID:12133923]
Abstract [show]
OBJECTIVE: To assess the performance of a two tier neonatal screening programme (IRT/DNA/IRT) for cystic fibrosis, based on immunoreactive trypsinogen (IRT) followed by direct cystic fibrosis transmembrane conductance regulator (CFTR) gene analysis (based on a panel of up to 31 mutations) in hypertrypsinaemic newborn infants and to compare it with a previous screening protocol. SETTING: The study comprised all the newborn infants in the period 1 October 1998 to 31 December 1999 in the Lombardia region, north western Italy. METHODS: The screening strategy consisted of an immunoreactive trypsinogen assay from dried blood spots, a polymerase chain reaction (PCR) followed by an oligonucleotide ligation assay (PCR-OLA), and a sequence code separation. RESULTS: 104 609 newborn infants were screened. 1457 hypertrypsinaemic infants (1.39%) were analysed with the PCR-OLA assay. 18 newborn homozygotes or compound heterozygotes for CFTR mutations were identified and referred to the cystic fibrosis (CF) centre at a mean age of 3 weeks. 125 infants presenting only one mutation were recalled for a sweat test: a diagnosis of CF was made in 13 infants, and parents of 112 neonates identified as carriers (1:13) received genetic counselling. The remaining 1314 hypertrypsinaemic newborn infants were recalled for IRT retesting and 177 were referred for a sweat test because the second IRT measurement was above the cut off value. Among this group a further two infants were diagnosed with CF (1.1%) leading to a CF prevalence of 1:3170. CONCLUSIONS: This strategy resulted in an early and accurate diagnosis of CF. The IRT/DNA/IRT protocol with an OLA assay was shown to be useful in an Italian population with a genetic heterogeneity, leading to the identification of 94% of infants with CF.
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No. Sentence Comment
302 The last led to a CF diagnosis in infants with sweat chloride values between 30 and 60 mmol/l, who underwent gene scanning (three infants with genotypes delF508/D1152H, delF508/D110N, delF508/D579G).
X
ABCC7 p.Asp110Asn 12133923:302:177
status: NEW