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Acanthosis nigricans in a child with mild osteochondrodysplasia and K650Q mutation in the FGFR3 gene

Juliaan Leroy UGent, Lieve Nuytinck UGent, Jo Lambert UGent, Jean-Marie Naeyaert and Geert Mortier UGent (2007) AMERICAN JOURNAL OF MEDICAL GENETICS PART A. 143A(24). p.3144-3149
abstract
A girl with a mild sporadic osteochondrodysplasia (OCD) similar to hypochondroplasia but with significant short stature is reported. She has been followed clinically between the ages of 9 months and 14 years. Growth remained normal throughout childhood with stature evolving about 3.5 SDs under the mean for age. By 8 years of age gradually appearing acanthosis nigricans (AN) in the neck and flanks was histopathologically confirmed. It provided the new incentive to search for specific FGFR3 mutations associated with this dermatologic abnormality. This resulted in the identification of the 1948A>C transversion predicting the K650Q missense substitution in the FGFR3 protein. Besides the expansion of the phenotypic spectrum of FGFR3-related OCDs to HCH with AN, this observation underscores the continuing adverse effect of this specific mutation upon the normal inhibitory signaling of the receptor at least in epidermal cells.
Please use this url to cite or link to this publication:
author
organization
year
type
journalArticle (proceedingsPaper)
publication status
published
subject
journal title
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
Am. J. Med. Genet. A
volume
143A
issue
24
pages
3144-3149 pages
publisher
WILEY-LISS
Web of Science type
Proceedings Paper
Web of Science id
000251405100036
JCR category
GENETICS & HEREDITY
JCR impact factor
2.44 (2007)
JCR rank
71/130 (2007)
JCR quartile
3 (2007)
ISSN
1552-4825
DOI
10.1002/ajmg.a.31966
language
English
UGent publication?
yes
classification
A1
id
390038
handle
http://hdl.handle.net/1854/LU-390038
date created
2008-03-03 09:58:00
date last changed
2010-03-29 15:21:10
@article{390038,
  abstract     = {A girl with a mild sporadic osteochondrodysplasia (OCD) similar to hypochondroplasia but with significant short stature is reported. She has been followed clinically between the ages of 9 months and 14 years. Growth remained normal throughout childhood with stature evolving about 3.5 SDs under the mean for age. By 8 years of age gradually appearing acanthosis nigricans (AN) in the neck and flanks was histopathologically confirmed. It provided the new incentive to search for specific FGFR3 mutations associated with this dermatologic abnormality. This resulted in the identification of the 1948A{\textrangle}C transversion predicting the K650Q missense substitution in the FGFR3 protein. Besides the expansion of the phenotypic spectrum of FGFR3-related OCDs to HCH with AN, this observation underscores the continuing adverse effect of this specific mutation upon the normal inhibitory signaling of the receptor at least in epidermal cells.},
  author       = {Leroy, Juliaan and Nuytinck, Lieve and Lambert, Jo and Naeyaert, Jean-Marie and Mortier, Geert},
  issn         = {1552-4825},
  journal      = {AMERICAN JOURNAL OF MEDICAL GENETICS PART A},
  language     = {eng},
  number       = {24},
  pages        = {3144--3149},
  publisher    = {WILEY-LISS},
  title        = {Acanthosis nigricans in a child with mild osteochondrodysplasia and K650Q mutation in the FGFR3 gene},
  url          = {http://dx.doi.org/10.1002/ajmg.a.31966},
  volume       = {143A},
  year         = {2007},
}

Chicago
Leroy, Juliaan, Lieve Nuytinck, Jo Lambert, Jean-Marie Naeyaert, and Geert Mortier. 2007. “Acanthosis Nigricans in a Child with Mild Osteochondrodysplasia and K650Q Mutation in the FGFR3 Gene.” American Journal of Medical Genetics Part A 143A (24): 3144–3149.
APA
Leroy, Juliaan, Nuytinck, L., Lambert, J., Naeyaert, J.-M., & Mortier, G. (2007). Acanthosis nigricans in a child with mild osteochondrodysplasia and K650Q mutation in the FGFR3 gene. AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 143A(24), 3144–3149.
Vancouver
1.
Leroy J, Nuytinck L, Lambert J, Naeyaert J-M, Mortier G. Acanthosis nigricans in a child with mild osteochondrodysplasia and K650Q mutation in the FGFR3 gene. AMERICAN JOURNAL OF MEDICAL GENETICS PART A. WILEY-LISS; 2007;143A(24):3144–9.
MLA
Leroy, Juliaan, Lieve Nuytinck, Jo Lambert, et al. “Acanthosis Nigricans in a Child with Mild Osteochondrodysplasia and K650Q Mutation in the FGFR3 Gene.” AMERICAN JOURNAL OF MEDICAL GENETICS PART A 143A.24 (2007): 3144–3149. Print.