Poon Kok-Siong, Tan Karen Mei-Ling, Zacharin Margaret, Ho Cindy Wei-Li
Department of Laboratory Medicine, National University Hospital, Singapore.
Department of Hormone Research, Murdoch Children's Research Institute, Melbourne, Australia.
J Pediatr Genet. 2021 Jun 1;12(4):308-311. doi: 10.1055/s-0041-1728746. eCollection 2023 Dec.
Pathogenic variants in the gene are causative of X-linked hypophosphatemic rickets (XLH). We present a case of a 2-year-old girl with hypophosphatemic rickets with genu varum and short stature without any family history of XLH. Next generation sequencing of the gene identified a splice donor variant, NM_000444.6:c.1173 + 5G > A in intron 10. This variant had a mosaic pattern with only 22% of the sequence reads showing the variant allele and was not present in the girl's parents, both of whom had a normal phenotype. This is a sporadic case of a de novo mosaic splice-site variant in the gene.
该基因的致病性变异是X连锁低磷性佝偻病（XLH）的病因。我们报告了一例2岁女童，患有低磷性佝偻病，伴有膝内翻和身材矮小，且无XLH家族史。对该基因进行下一代测序，在第10内含子中鉴定出一个剪接供体变异，NM_000444.6:c.1173 + 5G > A。该变异呈现嵌合模式，只有22%的序列读数显示变异等位基因，且在女童表型正常的父母中均未出现。这是该基因新发嵌合剪接位点变异的散发病例。
