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ABCB6 (MTABC3) excluded as the causative gene for the growth retardation syndrome with aminoaciduria, cholestasis, iron overload, and lactacidosis

Visapaa, Ilona; Fellman, Vineta LU ; Lanyi, Lisa and Peltonen, Leena (2002) In American Journal of Medical Genetics 109(3). p.202-205
Abstract
GRACILE syndrome (growth retardation, aminoaciduria, cholestasis, iron overload, lactacidosis, and early death; OMIM 603358) is a rare metabolic disorder with autosomal recessive mode of inheritance. So far it has been diagnosed only in patients with Finnish ancestors. The GRACILE locus has been positioned to a restricted region of chromosome 2q33-37, but the causative gene remains to be identified. The ABCB6 gene, involved in iron homeostasis, mitochondrial respiratory function, and maintenance of the stability of mitochondrial DNA, has been positioned to this same chromosomal region, and advocated in literature as a highly probable candidate gene for the syndrome on both functional and positional grounds. We carried out sequence and... (More)
GRACILE syndrome (growth retardation, aminoaciduria, cholestasis, iron overload, lactacidosis, and early death; OMIM 603358) is a rare metabolic disorder with autosomal recessive mode of inheritance. So far it has been diagnosed only in patients with Finnish ancestors. The GRACILE locus has been positioned to a restricted region of chromosome 2q33-37, but the causative gene remains to be identified. The ABCB6 gene, involved in iron homeostasis, mitochondrial respiratory function, and maintenance of the stability of mitochondrial DNA, has been positioned to this same chromosomal region, and advocated in literature as a highly probable candidate gene for the syndrome on both functional and positional grounds. We carried out sequence and quantitative expression analyses to detect potential disease-associated mutations in the ABCB6 gene. No mutations in the coding region of ABCB6 were found, and the expression level of ABCB6 in patient fibroblasts was found to be comparable to controls. Haplotype analysis of the critical DNA region provided evidence for positional exclusion also. Based on these data, ABCB6 is not the causative gene for GRACILE syndrome. (Less)
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author
publishing date
type
Contribution to journal
publication status
published
subject
in
American Journal of Medical Genetics
volume
109
issue
3
pages
202 - 205
publisher
John Wiley & Sons
external identifiers
  • pmid:11977179
  • scopus:0036568972
ISSN
0148-7299
DOI
10.1002/ajmg.10331
language
English
LU publication?
no
id
c396e1d0-5088-427b-bbb7-cdbfcaf637be (old id 1124770)
date added to LUP
2008-06-03 11:53:58
date last changed
2017-01-01 04:52:00
@article{c396e1d0-5088-427b-bbb7-cdbfcaf637be,
  abstract     = {GRACILE syndrome (growth retardation, aminoaciduria, cholestasis, iron overload, lactacidosis, and early death; OMIM 603358) is a rare metabolic disorder with autosomal recessive mode of inheritance. So far it has been diagnosed only in patients with Finnish ancestors. The GRACILE locus has been positioned to a restricted region of chromosome 2q33-37, but the causative gene remains to be identified. The ABCB6 gene, involved in iron homeostasis, mitochondrial respiratory function, and maintenance of the stability of mitochondrial DNA, has been positioned to this same chromosomal region, and advocated in literature as a highly probable candidate gene for the syndrome on both functional and positional grounds. We carried out sequence and quantitative expression analyses to detect potential disease-associated mutations in the ABCB6 gene. No mutations in the coding region of ABCB6 were found, and the expression level of ABCB6 in patient fibroblasts was found to be comparable to controls. Haplotype analysis of the critical DNA region provided evidence for positional exclusion also. Based on these data, ABCB6 is not the causative gene for GRACILE syndrome.},
  author       = {Visapaa, Ilona and Fellman, Vineta and Lanyi, Lisa and Peltonen, Leena},
  issn         = {0148-7299},
  language     = {eng},
  number       = {3},
  pages        = {202--205},
  publisher    = {John Wiley & Sons},
  series       = {American Journal of Medical Genetics},
  title        = {ABCB6 (MTABC3) excluded as the causative gene for the growth retardation syndrome with aminoaciduria, cholestasis, iron overload, and lactacidosis},
  url          = {http://dx.doi.org/10.1002/ajmg.10331},
  volume       = {109},
  year         = {2002},
}