ArticleMolecular genetics & genomic medicine2018
Genetic analysis of osteogenesis imperfecta in the Palestinian population: molecular screening of 49 affected families.
Article in Molecular genetics & genomic medicine, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers, 1 of them a synthesis that pooled it.
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Who cites it
25 citing papers in PubMed, 1 synthesis or guideline pooled it, 38 citations in OpenAlex.
- Previously UnreportedInternational journal of molecular sciences · 2025Pooled it
- Challenging Genetic Diagnosis in Siblings With Primordial Dwarfism, Muscle Wasting, Osteogenesis Imperfecta, Craniofacial Dysmorphism, and Ectodermal Anomalies.The Yale journal of biology and medicine · 2026Article
- A rare 5'UTR variant in SEC24D reveals translational dysfunction in osteogenesis imperfecta: a roadmap for RNA therapeutic rescue.Scientific reports · 2026Article
- Genotype and Phenotype of 198 Korean Patients With Nonlethal Osteogenesis Imperfecta: A Retrospective Cohort Study.Human mutation · 2026Article
- Review
- Splice‑site variant c.3531+1G>T inMolecular medicine reports · 2025Article
- Investigation of oral health findings and genotype correlations in osteogenesis imperfecta.Odontology · 2025Article
- Genetic Analysis, Phenotypic Spectrum and Functional Study of Rare Osteogenesis Imperfecta Caused by CRTAP Variants.The Journal of clinical endocrinology and metabolism · 2024Article
- Classification of osteogenesis imperfecta: Importance for prophylaxis and genetic counseling.World journal of clinical cases · 2023Review
- Article
- Case Report: Identification Pathogenic Abnormal Splicing ofFrontiers in genetics · 2022Article
- Two novel bi-allelic KDELR2 missense variants cause osteogenesis imperfecta with neurodevelopmental features.American journal of medical genetics. Part A · 2021Article
- Clinical and genetic analysis in 185 Chinese probands of osteogenesis imperfecta.Journal of bone and mineral metabolism · 2021Article
- Aberrant binding of mutant HSP47 affects posttranslational modification of type I collagen and leads to osteogenesis imperfecta.PLoS genetics · 2021Article
- A Founder Pathogenic Variant ofFrontiers in genetics · 2021Article
- Knocking out TMEM38B in human foetal osteoblasts hFOB 1.19 by CRISPR/Cas9: A model for recessive OI type XIV.PloS one · 2021Article
- Interaction between KDELR2 and HSP47 as a Key Determinant in Osteogenesis Imperfecta Caused by Bi-allelic Variants in KDELR2.American journal of human genetics · 2020Article
- Reproductive options for families at risk of Osteogenesis Imperfecta: a review.Orphanet journal of rare diseases · 2020Review
- Comprehensive genetic analyses using targeted next-generation sequencing and genotype-phenotype correlations in 53 Japanese patients with osteogenesis imperfecta.Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA · 2019Article
- Bone biology: insights from osteogenesis imperfecta and related rare fragility syndromes.The FEBS journal · 2019Review
Corrections and comments
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Authors and funding
11 authors at 4 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundOsteogenesis imperfecta (OI) is a heterogeneous hereditary connective tissue disorder clinically hallmarked by increased susceptibility to bone fractures.
methodsWe analyzed a cohort of 77 diagnosed OI patients from 49 unrelated Palestinian families. Next-generation sequencing technology was used to screen a panel of known OI genes.
resultsIn 41 probands, we identified 28 different disease-causing variants of 9 different known OI genes. Eleven of the variants are novel. Ten of the 28 variants are located in COL1A1, five in COL1A2, three in BMP1, three in FKBP10, two in TMEM38B, two in P3H1, and one each in CRTAP, SERPINF1, and SERPINH1. The absence of disease-causing variants in the remaining eight probands suggests further genetic heterogeneity in OI. In general, most OI patients (90%) harbor mainly variants in type I collagen resulting in an autosomal dominant inheritance pattern. However, in our cohort almost 61% (25/41) were affected with autosomal recessive OI. Moreover, we document a 21-kb genomic deletion in the TMEM38B gene identified in 29% (12/41) of the tested probands, making it the most frequent OI-causing variant in the Palestinian population.
conclusionThis is the first genetic screening of an OI cohort from the Palestinian population. Our data are important for genetic counseling of OI patients and families in highly consanguineous populations.
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