J Pediatr Genet 2022; 11(01): 081-086
DOI: 10.1055/s-0040-1716830
Rapid Communication

Over-Representation of Recessive Osteogenesis Imperfecta in Asian Indian Children

1   Genetic Metabolic Unit, Department of Pediatrics, Advanced Pediatrics Centre, Postgraduate Institute of Medical Education and Research, Chandigarh, India
,
Yousaf Qureshi
1   Genetic Metabolic Unit, Department of Pediatrics, Advanced Pediatrics Centre, Postgraduate Institute of Medical Education and Research, Chandigarh, India
,
Uwe Kornak
2   Institute of Medical Genetics and Human Genetics, Charite-Universitaetsmedizin, Berlin, Germany
› Author Affiliations

Abstract

Several genes are implicated in the etiology of early onset osteogenesis imperfecta (OI). The various genes causing severe OI include WNT1, SERPINF1, P3H1, CREB3L1, and CRTAP, although glycine substitutions in COL1A1chains have also been predicted to cause perinatal lethal OI . Patients with early onset OI present decreased mobility, recurrent rib fractures, bony deformities, and chest infections that lead to an early death. We reported our experience in children with OI in Asian Indian families, which includes two patients with SERPINF1 pathogenic variants; and another two patients with severe OI and antenatal fractures caused by pathogenic variants in the CRTAP gene, identified by next generation sequencing (NGS). For one affected fetus, medical termination of pregnancy was done. The other baby was started on zoledronate therapy just after birth and is now 3 years old. Prenatal diagnosis was subsequently done on chorionic villus sample in the latter family.



Publication History

Received: 24 June 2020

Accepted: 17 August 2020

Article published online:
16 September 2020

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