The use of whole exome sequencing for the diagnosis of autosomal recessive malignant infantile osteopetrosis.

Clin. Genet.2017 Jul;92(1):80-85. doi:10.1111/cge.12804. Epub 2016 Jun 02

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Autosomal recessive malignant infantile osteopetrosis is a congenital disease characterized by pathologically increased bone density. Recently, the use of whole exome sequencing has been utilized as a clinical diagnostic tool in a number of Mendelian disorders. In this study, whole exome sequencing (WES) was successfully used in six patients with malignant infantile osteopetrosis (MIOP) and identified mutations in fourâMIOP-related genes (CLCN7, TCIRG1, SNX10, and TNFRSF11A). We report these patients, describe the mutations and review the current literature.

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The use of whole exome sequencing for the diagnosis of autosomal recessive malignant infantile osteopetrosis.

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