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A familial missense variant in the Alzheimer's disease gene SORL1 impairs its maturation and endosomal sorting.
Acta Neuropathol
January 2024
Department of Laboratory Medicine and Pathology, University of Washington, Seattle, WA, 98109, USA.
The SORL1 gene has recently emerged as a strong Alzheimer's Disease (AD) risk gene. Over 500 different variants have been identified in the gene and the contribution of individual variants to AD development and progression is still largely unknown. Here, we describe a family consisting of 2 parents and 5 offspring.
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Clin Neurophysiol
March 2023
Department of Neurology, Wake Forest School of Medicine, NC, USA.
Extended phenotypes of PIEZO1-related lymphatic dysplasia caused by two novel compound heterozygous variants.
Eur J Med Genet
October 2021
Department of Pediatrics, Seoul National University College of Medicine, Seoul National University Children's Hospital, Seoul, South Korea; Rare Disease Center, Seoul National University Hospital, Seoul, South Korea. Electronic address:
Defects in the PIEZO1 gene cause lymphatic dysplasia in an autosomal recessive manner, mostly by loss-of-function variants. Moreover, since 2019, the role of PIEZO1 in bone formation has been established, but there have been no PIEZO1-related cases presenting definite skeletal involvement to date. A 21-year-old male with primary lymphatic dysplasia had some other distinctive clinical features, including multiple fracture history during infancy, thoracolumbar scoliosis, short stature, and left-sided facial bone hypoplasia.
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