Genetic analysis of osteogenesis imperfecta in the Palestinian population: molecular screening of 49 affected families

Genetic analysis of osteogenesis imperfecta in the Palestinian population: molecular screening of... IntroductionOsteogenesis imperfecta (OI) or brittle bone disease is a rare heterogeneous hereditary disorder with an incidence of 1:15,000 to 1:25,000 births (Stoll et al. ; Martin and Shapiro ). The clinical hallmark of OI is a low bone mass that causes bone fragility, easy fracturing, and growth impairment. Other features may include blue sclerae, dentinogenesis imperfecta, and hearing loss (van Dijk and Sillence ). The clinical heterogeneity of OI ranges from hardly detectable mild OI with few fractures to perinatal lethality. Autosomal dominant (AD), autosomal recessive (AR), and X‐linked inheritance patterns have been described previously. The current clinical classifications elaborating on the OI classification of 2010 reveal the importance of phenotyping for classifying and diagnosing OI (Warman et al. ; van Dijk and Sillence ; Bonafe et al. ). Forlino and Marini () subdivide OI genes in five functional groups according to the pathway and mechanism in which they are involved. We present our results according to these functional groups. However, several reported OI genes cannot be classified, including TAPT1, SEC24D, P4HB, SPARC, and MBTPS2 (OMIM#300294) (Garbes et al. ; Mendoza‐Londono et al. ; Rauch et al. ; Symoens et al. ; Lindert et al. ).Middle Eastern populations, especially Arabs, are highly consanguineous because of cultural reasons. http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Molecular Genetics & Genomic Medicine Wiley

Genetic analysis of osteogenesis imperfecta in the Palestinian population: molecular screening of 49 affected families

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Publisher
Wiley Subscription Services, Inc., A Wiley Company
Copyright
Copyright © 2018 John Wiley & Sons Ltd.
ISSN
2324-9269
eISSN
2324-9269
D.O.I.
10.1002/mgg3.331
Publisher site
See Article on Publisher Site

Abstract

IntroductionOsteogenesis imperfecta (OI) or brittle bone disease is a rare heterogeneous hereditary disorder with an incidence of 1:15,000 to 1:25,000 births (Stoll et al. ; Martin and Shapiro ). The clinical hallmark of OI is a low bone mass that causes bone fragility, easy fracturing, and growth impairment. Other features may include blue sclerae, dentinogenesis imperfecta, and hearing loss (van Dijk and Sillence ). The clinical heterogeneity of OI ranges from hardly detectable mild OI with few fractures to perinatal lethality. Autosomal dominant (AD), autosomal recessive (AR), and X‐linked inheritance patterns have been described previously. The current clinical classifications elaborating on the OI classification of 2010 reveal the importance of phenotyping for classifying and diagnosing OI (Warman et al. ; van Dijk and Sillence ; Bonafe et al. ). Forlino and Marini () subdivide OI genes in five functional groups according to the pathway and mechanism in which they are involved. We present our results according to these functional groups. However, several reported OI genes cannot be classified, including TAPT1, SEC24D, P4HB, SPARC, and MBTPS2 (OMIM#300294) (Garbes et al. ; Mendoza‐Londono et al. ; Rauch et al. ; Symoens et al. ; Lindert et al. ).Middle Eastern populations, especially Arabs, are highly consanguineous because of cultural reasons.

Journal

Molecular Genetics & Genomic MedicineWiley

Published: Jan 1, 2018

Keywords: ; ; ;

References

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