Osteoporosis-Pseudoglioma in a Mauritanian Child due to a Novel Mutation in LRP5
Joint Authors
Biha, Noura
Ghaber, S. M.
Hacen, M. M.
Collet, Corinne
Source
Issue
Vol. 2016, Issue 2016 (31 Dec. 2016), pp.1-5, 5 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2016-01-19
Country of Publication
Egypt
No. of Pages
5
Main Subjects
Abstract EN
Osteoporosis-pseudoglioma (OPPG) syndrome is a very rare autosomal recessive disorder, caused by mutations in the low-density lipoprotein receptor-related protein 5 (LRP5) gene.
It manifests by severe juvenile osteoporosis with congenital or infancy-onset visual loss.
We describe a case of OPPG due to novel mutation in LRP5 gene, occurring in a female Mauritanian child.
This 10-year-old female child was born blind, and after then multiple fragility fractures appeared.
PCR amplification and sequencing revealed a novel homozygous nonsense mutation in exon 10 of the LRP5 gene (c.2270G>A; pTrP757⁎); this mutation leads to the production of a truncated protein containing 757 amino acids instead of 1615, located in the third β-propeller domain of the LRP5 protein.
Both parents were heterozygous for the mutation.
This is the first case of the OPPG described in black Africans, which broadens the spectrum of LRP5 gene mutations in OPPG.
American Psychological Association (APA)
Biha, Noura& Ghaber, S. M.& Hacen, M. M.& Collet, Corinne. 2016. Osteoporosis-Pseudoglioma in a Mauritanian Child due to a Novel Mutation in LRP5. Case Reports in Genetics،Vol. 2016, no. 2016, pp.1-5.
https://search.emarefa.net/detail/BIM-1100764
Modern Language Association (MLA)
Biha, Noura…[et al.]. Osteoporosis-Pseudoglioma in a Mauritanian Child due to a Novel Mutation in LRP5. Case Reports in Genetics No. 2016 (2016), pp.1-5.
https://search.emarefa.net/detail/BIM-1100764
American Medical Association (AMA)
Biha, Noura& Ghaber, S. M.& Hacen, M. M.& Collet, Corinne. Osteoporosis-Pseudoglioma in a Mauritanian Child due to a Novel Mutation in LRP5. Case Reports in Genetics. 2016. Vol. 2016, no. 2016, pp.1-5.
https://search.emarefa.net/detail/BIM-1100764
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1100764