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

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...

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Bibliographic Details
Published in:Clinical genetics 2017-07, Vol.92 (1), p.80-85
Main Authors: Shamriz, O., Shaag, A., Yaacov, B., NaserEddin, A., Weintraub, M., Elpeleg, O., Stepensky, P.
Format: Article
Language:English
Subjects:
Bone density
Bone Density - genetics
Child, Preschool
Chloride Channels - genetics
Diagnosis
Exome
Female
Genetic Predisposition to Disease
genetic research
Humans
Infant
Infant, Newborn
Male
Mutation
osteoclasts
Osteopetrosis
Osteopetrosis - genetics
Osteopetrosis - physiopathology
Osteoprotegerin
Receptor Activator of Nuclear Factor-kappa B - genetics
Sorting Nexins - genetics
Vacuolar Proton-Translocating ATPases - genetics
Whole Exome Sequencing
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Summary: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 four MIOP‐related genes (CLCN7, TCIRG1, SNX10, and TNFRSF11A). We report these patients, describe the mutations and review the current literature.
ISSN:0009-9163
1399-0004
DOI:10.1111/cge.12804