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An Uncommon Case of Hypophosphataemia-Non-Lethal Raine Syndrome With Novel FAM20C Variant: Expanding the Phenotypic
Candice Wai-Man Au1, Shirley Sze-Wing Cheng1, Timothy Hua-Tse Cheng2
1Department of Clinical Genetics, Hong Kong Children's Hospital, Hong Kong SAR, China.
None:
Raine Syndrome (MIM #259775) is an autosomal recessive osteosclerotic disorder due to biallelic variants in the FAM20C gene. It is classified into two subtypes based on perinatal lethality. Here, we report an 18-year-old male who presented with dental problems in childhood and subjective gait instability, followed by an incidental finding of hypophosphataemia and multiple-level spinal stenosis. Examination showed characteristic features including a high forehead, midface hypoplasia, prognathism, amelogenesis imperfecta, brachydactyly and bulbous finger tips, and further biochemical workup revealed a low 1,25-dihydroxyvitamin D level and an elevated FGF23 level. Exome sequencing identified compound heterozygous NM_020223.4 c.1487C > T, p.(Pro496Leu), and c.1375C > T, p.(Arg459Cys) likely pathogenic variants in the FAM20C gene, with the latter being a novel variant. This case report therefore expands the genetic and phenotypic spectrum of non-lethal Raine Syndrome, and underscores the importance of genetic evaluation in hypophosphatemic patients with dysmorphic features.
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