A single-centre study of genetic mutations, audiology, echocardiogram and pulmonary function in Saudi children with osteogenesis imperfecta
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Noman Ahmad
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Nabil Abdulrahman Aleysae
Abstract
Objectives
Osteogenesis imperfecta (OI) is a heterogeneous group of inherited connective tissue disorders, characterised by skeletal fragility. Patients with OI may also exhibit extra-skeletal features like blue or grey scleral colour, fragile skin, easy bruising, joint laxity, short stature, deafness, cardiac valve abnormalities and abnormal pulmonary function. The objective of this study is to describe genetic mutations, prevalence of hearing issues, cardiac complications and impaired pulmonary function in children with OI.
Methods
This is a cross-sectional study of 23 Saudi children aged 6 months to 18 years who were diagnosed with OI. The revised Sillence classification (2,105) was used to classify the OI type. Whole exome sequencing was performed for genetic mutations. The hearing was assessed by either pure-tone audiometry and/or otoacoustic emission testing. Cardiac defects were screened by echocardiograms. Spirometry was performed to assess pulmonary function. Data were analysed with descriptive statistics.
Results
Based on the Sillence classification, 16 patients had OI type III, 6 had type IV and 1 had type I. Of the18 patients who had genetic sequencing, 66.6% had autosomal dominant and 33.3% had autosomal recessive mutations. Among children who had screening, hearing loss was diagnosed in 53% (9/17), congenital cardiac malformations in 26% (5/19) and restrictive lung disease in 70% (7/10).
Conclusions
We found significant extra-skeletal features and a high yield of genetic mutations associated with OI. We suggest further studies to develop a screening protocol for extra-skeletal features in children with OI.
Acknowledgements
We thank Dr. Muhsina Mohammed, Dr. DareenTarim and Dr. Mona Bahasan for data collection.
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Research funding: This research did not receive funding from public, commercial or not-for-profit sectors.
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Author contributions: All authors have accepted responsibility for the entire content of this manuscript and approved its submission.
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Competing interests: Authors state no conflict of interest.
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Informed consent: Written informed consent was obtained from the parents.
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Ethical approval: The study proposal was approved by institutional review board.
References
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© 2021 Walter de Gruyter GmbH, Berlin/Boston
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- Original Articles
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- A single-centre study of genetic mutations, audiology, echocardiogram and pulmonary function in Saudi children with osteogenesis imperfecta
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- Role of the SARS-CoV-2 virus in the appearance of new onset type 1 diabetes mellitus in children in Gran Canaria, Spain
- Case Reports
- 3-M syndrome – a primordial short stature disorder with novel CUL7 mutation in two Indian patients
- The coincidence of two rare diseases with opposite metabolic phenotype: a child with congenital hyperinsulinism and Bloom syndrome
- Growth hormone deficiency in a child with benign hereditary chorea caused by a de novo mutation of the TITF1/NKX2-1 gene
- Identification of a novel mutation in the PHKA2 gene in a child with liver cirrhosis
Articles in the same Issue
- Frontmatter
- Review Article
- Congenital hyperinsulinism: recent updates on molecular mechanisms, diagnosis and management
- Original Articles
- Weight changes of children in 1 year during COVID-19 pandemic
- Three novel mutations of the BCKDHA, BCKDHB and DBT genes in Chinese children with maple syrup urine disease
- Rates of adrenal insufficiency using a monoclonal vs. polyclonal cortisol assay
- Hyperinsulinemic hypoglycemia in growth restricted convalescent preterm neonates: clinical characteristics and impediments to early diagnosis
- Identification of three novel pathogenic mutations in cystathionine beta-synthase gene of Pakistani intellectually disabled patients
- The prevalence of incidental finding of gynecomastia on thoracic computed tomography in the pediatric age group
- The prevalence of hypertension and elevated blood pressure and its correlation with overweight/obesity among students aged 6–17 years in Suzhou
- Investigation of androgen receptor gene CAG repeat length polymorphism in pubertal gynecomastia
- A single-centre study of genetic mutations, audiology, echocardiogram and pulmonary function in Saudi children with osteogenesis imperfecta
- A 10-year retrospective single-center study of alpha-fetoprotein and beta-human chorionic gonadotropin in Romanian children with (para)gonadal tumors and cysts
- Clinical, pathological and molecular spectrum of patients with glycogen storage diseases in Pakistan
- Allelic dropout in PAH affecting the results of genetic diagnosis in phenylketonuria
- Short Communication
- Role of the SARS-CoV-2 virus in the appearance of new onset type 1 diabetes mellitus in children in Gran Canaria, Spain
- Case Reports
- 3-M syndrome – a primordial short stature disorder with novel CUL7 mutation in two Indian patients
- The coincidence of two rare diseases with opposite metabolic phenotype: a child with congenital hyperinsulinism and Bloom syndrome
- Growth hormone deficiency in a child with benign hereditary chorea caused by a de novo mutation of the TITF1/NKX2-1 gene
- Identification of a novel mutation in the PHKA2 gene in a child with liver cirrhosis
