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.
Molecular Genetics & Genomic Medicine – Wiley
Published: Jan 1, 2018
Keywords: ; ; ;
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