Mutations in FAM20C are associated with lethal osteosclerotic bone dysplasia (Raine syndrome), highlighting a crucial molecule in bone development

Article Abstract:

The identification of an unusual chromosome 7 rearrangement and microdeletion in an affected subject and subsequently identified mutations in the FAM20C gene located within deleted region is detailed. The study provides insights into the causative role of FAM20C in lethal osteosclerotic disorder and its crucial role in normal bone development.

Bones, Fibrous dysplasia of bone, Osteogenesis

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Neurologic, gastric, and opthalmologic pathologies in a murine model of mucolipidosis type IV

Article Abstract:

The development of first model for human mucolipidosis type IV (MLIV) which could provide insight into disease pathogenesis is described. The model could also be used to test treatment strategies and potential therapies aimed at preventing or ameliorating the abnormal lysosomal storage in neurological disorder.

Models, Gastrin, Mucolipidoses

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A systematic genetic assessment of 1,433 sequence variants of unknown clinical significance in the BRCA1 and BRACA2 breast cancer-predisposition genes

Article Abstract:

The assessment results of the clinical significance of 1,433 sequence variants of unknown significance (VUSs) in the BRCA breast cancer genes is presented. The majority of VUSs classified were found to be of no clinical significance with respect to cancer risk.

Breast cancer, Pedigree analysis

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