X连锁显性低磷血症(XLH),最常见的遗传性低磷酸盐血症病/骨软化症,是由功能丧失的磷酸调节内肽酶同源物X连锁基因(PHEX)变体引起的。然而,同义的PHEX变体在XLH中是罕见的。我们报道了一个7岁的低磷酸盐血症男孩,身材矮小,下肢畸形.全外显子组测序,逆转录聚合酶链反应,进行Sanger测序以鉴定变异体的致病性。一种新颖的同义PHEX变体(NM_000444.4:c.1530C>T,p.Arg510Arg)在先证者中检测到。进一步的分析显示在剪接过程中外显子14的5'位点有58-bp的缺失。这项研究扩展了XLH的遗传谱,并证实了同义PHEX变体的稀有性和重要性。
X-linked dominant hypophosphatemia (
XLH), the most common form of hereditary hypophosphatemic rickets/osteomalacia, is caused by loss-of-function phosphate-regulating endopeptidase homolog X-linked gene (PHEX) variants. However, synonymous PHEX variants are rare in
XLH. We report a 7-year-old boy with hypophosphatemia, short stature, and lower limb deformity. Whole-exome sequencing, reverse transcription-polymerase chain reaction, and Sanger sequencing were performed to identify the pathogenicity of the variant. A novel synonymous PHEX variant (NM_000444.4:c.1530 C>T, p.Arg510Arg) was detected in the proband. Further analysis revealed a 58-bp deletion at the 5\' site of exon 14 during splicing. This study extends the genetic spectrum of
XLH and confirms the rarity and significance of synonymous PHEX variants.