Journal
EUROPEAN JOURNAL OF MEDICAL GENETICS
Volume 64, Issue 10, Pages -Publisher
ELSEVIER
DOI: 10.1016/j.ejmg.2021.104295
Keywords
PIEZO1; Abnormality of the lymphatic system; Lymphatic dysplasia; Recurrent fractures; Scoliosis; Abnormality of the skeletal system
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The study presents a rare case of a patient with lymphatic dysplasia caused by compound heterozygous variants of PIEZO1, along with skeletal phenotypes as additional clinical manifestations.
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. We analyzed the whole exome of the patient and found two novel pathogenic variants of PIEZO1 in trans: a 93.7 kb heterozygous deletion (chr16:88,782,477-88,876,207; exon 1-50) and c.2858G>A (p.Arg953His). Sanger sequencing validated the deletion with breakpoints, and each variant was inherited from a different parent. This study presented an extremely rare case of a patient with lymphatic dysplasia caused by compound heterozygous variants of PIEZO1, along with additional clinical manifestations including several skeletal phenotypes.
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