A single-centre study of genetic mutations, audiology, echocardiogram and pulmonary function in Saudi children with osteogenesis imperfecta.

Autor:	Ahmad N; King Faisal Specialist Hospital & Research Centre (Gen. Org.), Jeddah, Saudi Arabia., Aleysae NA; King Faisal Specialist Hospital & Research Centre (Gen. Org.), Jeddah, Saudi Arabia., Sobaihi M; King Faisal Specialist Hospital & Research Centre (Gen. Org.), Jeddah, Saudi Arabia., Naitah N; King Faisal Specialist Hospital & Research Centre (Gen. Org.), Jeddah, Saudi Arabia., Rasol MA; King Faisal Specialist Hospital & Research Centre (Gen. Org.), Jeddah, Saudi Arabia., Al-Kouatli AA; King Faisal Specialist Hospital & Research Centre (Gen. Org.), Jeddah, Saudi Arabia., Almaghamsi TM; King Faisal Specialist Hospital & Research Centre (Gen. Org.), Jeddah, Saudi Arabia., Heaphy ELG; Research Centre, King Faisal Specialist Hospital & Research Centre (Gen. Org.), Jeddah, Saudi Arabia., Attiyah MH; King Faisal Specialist Hospital & Research Centre (Gen. Org.), Jeddah, Saudi Arabia., Hrays M; King Faisal Specialist Hospital & Research Centre (Gen. Org.), Jeddah, Saudi Arabia., Alghamdi B; Molecular Oncology Department, King Faisal Specialist Hospital & Research Centre (Gen. Org.), Riyadh, Saudi Arabia., Alzahrani AS; Research Centre, King Faisal Specialist Hospital & Research Centre (Gen. Org.), Jeddah, Saudi Arabia.
Jazyk:	angličtina
Zdroj:	Journal of pediatric endocrinology & metabolism : JPEM [J Pediatr Endocrinol Metab] 2021 Dec 23; Vol. 35 (3), pp. 355-362. Date of Electronic Publication: 2021 Dec 23 (Print Publication: 2022).
DOI:	10.1515/jpem-2021-0587
Abstrakt:	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. (© 2021 Walter de Gruyter GmbH, Berlin/Boston.)
Databáze:	MEDLINE
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