Krishnan S(1), Rughani A(2), Tsai A(3), Palle S(4). Author information:
(1)Pediatrics, Section of Diabetes and Endocrinology, University of Oklahoma
Health Sciences Center, Oklahoma City, OK, USA [Email]
(2)Pediatrics, Section of Diabetes and Endocrinology, University of Oklahoma
Health Sciences Center, Oklahoma City, OK, USA.
(3)Pediatrics, Section of Genetics, University of Oklahoma Health Sciences
Center, Oklahoma City, OK, USA.
(4)Pediatrics, Section of Gastroenterology, University of Oklahoma Health
Sciences Center, Oklahoma City, OK, USA.
Osteogenesis imperfecta (OI) consists of a group of genetically and phenotypically heterogeneous diseases characterised by bone fragility. Recent improvement in gene sequencing methods has helped us identify rare forms of OI that are inherited in an autosomal recessive manner. Paediatric endocrinology was consulted on a newborn girl with multiple fractures and wavy thin ribs noted on X-rays. In addition to the bone phenotype, she also has short stature and recurrent acute liver failure (ALF) episodes triggered by intercurrent illness. Whole exome sequencing revealed two novel compound heterozygous variants in neuroblastoma amplified sequence (NBAS) gene. NBAS gene codes for a protein that is involved in nonsense-mediated decay pathway and retrograde transport of proteins from Golgi to endoplasmic reticulum. Recognition of pathogenic variants in this gene as a rare cause of autosomal recessive OI and recurrent ALF has important therapeutic implications.
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