title: The use of whole exome sequencing for the diagnosis of autosomal recessive malignant infantile osteopetrosis.
abstract: 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.
authors.affiliation: Division of Pediatrics, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.
authors.forename: O
authors.initials: O
authors.lastname: Shamriz
authors.affiliation: Monique and Jacques Roboh Department of Genetic Research, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.
authors.forename: A
authors.initials: A
authors.lastname: Shaag
authors.affiliation: Monique and Jacques Roboh Department of Genetic Research, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.
authors.forename: B
authors.initials: B
authors.lastname: Yaacov
authors.affiliation: Division of Pediatrics, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.
authors.forename: A
authors.initials: A
authors.lastname: NaserEddin
authors.affiliation: Department of Pediatric Hematology-Oncology and Bone Marrow Transplantation, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.
authors.forename: M
authors.initials: M
authors.lastname: Weintraub
authors.affiliation: Monique and Jacques Roboh Department of Genetic Research, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.
authors.forename: O
authors.initials: O
authors.lastname: Elpeleg
authors.affiliation: Department of Pediatric Hematology-Oncology and Bone Marrow Transplantation, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.
authors.forename: P
authors.initials: P
authors.lastname: Stepensky
mesh_terms: D015519:Bone Density / Q000235:genetics; D002675:Child, Preschool; D018118:Chloride Channels / Q000235:genetics*; D059472:Exome; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D009154:Mutation; D010022:Osteopetrosis / Q000235:genetics* / Q000503:physiopathology; D053246:Receptor Activator of Nuclear Factor-kappa B / Q000235:genetics*; D058305:Sorting Nexins / Q000235:genetics*; D025262:Vacuolar Proton-Translocating ATPases / Q000235:genetics*; D000073359:Exome Sequencing
chemical_list: C097540:CLCN7 protein, human; D018118:Chloride Channels; D053246:Receptor Activator of Nuclear Factor-kappa B; C516568:SNX10 protein, human; D058305:Sorting Nexins; C472421:TCIRG1 protein, human; C505686:TNFRSF11A protein, human; D025262:Vacuolar Proton-Translocating ATPases
keywords: genetic research; osteoclasts; osteopetrosis; whole exome sequencing