ABCD3 p.Leu516Pro
| Predicted by SNAP2: | A: N (57%), C: N (66%), D: D (66%), E: D (59%), F: N (61%), G: D (66%), H: N (57%), I: N (93%), K: D (63%), M: N (78%), N: N (53%), P: D (63%), Q: N (57%), R: D (53%), S: N (53%), T: N (57%), V: N (82%), W: D (63%), Y: N (53%), |
| Predicted by PROVEAN: | A: D, C: D, D: D, E: D, F: D, G: D, H: D, I: N, K: D, M: N, N: D, P: D, Q: D, R: D, S: D, T: D, V: N, W: D, Y: D, |
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[hide] Molecular analysis of ABCD1 gene in Indian patient... Clin Chim Acta. 2011 Nov 20;412(23-24):2289-95. Epub 2011 Aug 26. Shukla P, Gupta N, Gulati S, Ghosh M, Vasisht S, Sharma R, Gupta AK, Kalra V, Kabra M
Molecular analysis of ABCD1 gene in Indian patients with X-linked adrenoleukodystrophy.
Clin Chim Acta. 2011 Nov 20;412(23-24):2289-95. Epub 2011 Aug 26., [PMID:21889498]
Abstract [show]
BACKGROUND: X-linked Adrenoleukodystrophy (X-ALD), with an incidence of 1:14,000 is the most frequent monogenic demyelinating disorder worldwide. The principal biochemical abnormality in X-ALD is the increased levels of saturated, unbranched very long chain fatty acids (VLCFA). It is caused by mutations in ABCD1 gene. No molecular data on X-ALD is available in India and mutational spectrum in Indian patients is not known. METHODS: We standardized conformation sensitive gel electrophoresis (CSGE) method to detect mutations in ABCD1 gene in twenty Indian patients with X-ALD. The results were confirmed by sequencing. Genotype-phenotype correlation was also attempted. Prenatal diagnosis (PND) in one family was done using chorionic villi (CV) sample at 12 weeks of gestation. RESULTS: Out of twenty, causative mutations could be identified in twelve patients (60%). Six reported and four novel mutations were identified. Three polymorphisms were also observed. No hot spot was found. No significant genotype-phenotype correlation could be established. CONCLUSIONS: The study identified the mutation spectrum of Indian X-ALD patients, which enabled us to offer accurate genetic counseling, carrier detection and prenatal diagnosis where needed.
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No. Sentence Comment
124 CCER No A5b 34 39 Neuroregression, behavior problem, speech problem, abnormal gait, urinary incontinence AMN c.1679 CNT (p.Pro560Leu) in exon7/c.420 CNA (p.Ile140Ile) (unreported) in exon 1 A6 13 15 Hyperactivity, slurred speech, spastic gait, deterioration of vision AMN No A7b 22 26 Neuroregression, deterioration of vision, cognitive decline, aggressive behavior, spastic gait, urinary incontinence Adult Cerebral c.1938_1939dupGG (p.Ala647fs) in exon 9 A8 4 4.5 Deterioration of vision and hearing, delayed micturition CCER No A9 6 6 Neuroregression, deterioration of vision and hearing, behavior problem, slurred speech, abnormal gait CCER c.1816 TNC (p.Ser606Pro) in exon 8 2.499 Probably damaging A10b 8 8 Neroregression, deterioration of vision, cognitive decline, speech problem, spastic gait CCER c.1394-2ANG in intron 4 A11 15 22 Neuroregression, seizures, deterioration of vision, cognitive decline, speech problem, spastic gait Adolescent c.67_83del17 (p.Ala23fs) in exon 1 A12b 20 21 Neuroregression, speech problem, abnormal gait, urinary incontinence AMN c.1547 TNC (p.Leu516Pro) in exon 6 2.482 Probably damaging A13 45.5 46 Neuroregression, spastic paraparesis, deterioration of vision and hearing, memory decine, behavior problem, cognitive decline, impotence, urinary incontinence Adult cerebral c.1780+2 TNG in exon 7 A14 11 11 Neuroregression, deterioration of hearing, deterioration of school performance, behavior problem, gait abnormaility Adolescent No A15 9 12 Loss of vision and hearing, low volume speech CCER c.395 GNA (p.Trp132X) in exon 1 A16 1 14 Neuroregression, seizures, deterioration of school performance, behavioral problem CCER c.1979 GNA (p.Arg660Gln) in exon 9/p.Ala650Ala, p. Ser633Ser in exon 9 2.409 Probably damaging A17b 0.3 9 Seizures, weakness of right limbs, speech problem, abnormal gait CCER No A18 0.9 15 Neuroregression, deterioration of vision and hearing, behavioral problem, cognitive decline, speech problem, abnormal gait CCER c.1979 GNA (p.Arg660Gln) in exon 9/p.Ala650Ala, p. Ser633Ser in exon 9 2.409 Probably damaging A19 0.6 14 Loss of vision and hearing, speech problem CCER No/p.Ser633Ser in exon 9 A20 12 14 Spastic quadriparaparesis, mild cognitive decline, delayed puberty AMN No CCER: Childhood Cerebral.
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ABCD3 p.Leu516Pro 21889498:124:1085
status: NEW