ABCMdb

ABCD1 p.Ala223Asp

Predicted by SNAP2:	C: N (66%), D: D (80%), E: D (80%), F: N (72%), G: N (57%), H: D (75%), I: N (93%), K: D (80%), L: N (93%), M: N (82%), N: D (66%), P: D (71%), Q: D (71%), R: D (80%), S: N (57%), T: N (78%), V: N (93%), W: D (80%), Y: N (53%),
Predicted by PROVEAN:	C: N, D: D, E: N, F: N, G: D, H: D, I: N, K: N, L: N, M: N, N: D, P: N, Q: N, R: D, S: N, T: N, V: N, W: D, Y: N,

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Publications
[hide] Multiple endocrine disorders associated with adren... Pediatr Neurol. 2014 Jun;50(6):622-4. doi: 10.1016/j.pediatrneurol.2014.01.027. Epub 2014 Jan 16. Triantafyllou P, Economou M, Vlachaki E, Aggelaki M, Athanassiou-Mataxa M, Michelakaki E, Zafeiriou DI
Multiple endocrine disorders associated with adrenomyeloneuropathy and a novel mutation of the ABCD1 gene.
Pediatr Neurol. 2014 Jun;50(6):622-4. doi: 10.1016/j.pediatrneurol.2014.01.027. Epub 2014 Jan 16., [PMID:24685009]

Abstract [show]
INTRODUCTION: X-linked adrenomyeloneuropathy (X-AMN) is a genetic disorder that primarily affects the adrenal cortex and the nervous system. The disease shows a wide range of phenotypic expression, age of onset, and rate of progression. PATIENT DESCRIPTION: We present a thalassemic 23-year-old man with X-AMN and multiple endocrine disorders. At age 2 years, he was diagnosed with thalassaemia intermedia, and he was receiving occasional blood transfusions and maintaining an adequate hemoglobin level without signs of extramedullar hematopoiesis or hemosiderosis. During adolescence, he was diagnosed with growth hormone deficiency, primary hypothyroidism, and primary adrenal insufficiency. In his early 20s he demonstrated progressive tetraparesis, and the diagnosis of X-AMN was confirmed by DNA analysis of the ABCD1 gene. CONCLUSION: This patient expands the phenotype X-AMN by adding growth hormone deficiency and hypothyroidism.

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Sentences [show]
No. Sentence Comment
45 Full sequencing of the coding regions of the ABCD1 gene disclosed the previously unreported mutation Nt1054 C/A (A223D). Login to comment