Kishio Nozomu, Iwama Kazuhiro, Nakanishi Sayuri, Shindo Ryosuke, Yasui Masaki, Nicho Naoki, Takahashi Atsushi, Kohara Mana, Hirata Michisato, Kemmotsu Takahiro, Tanoshima Miki, Ito Shuichi
Department of Maternal and Perinatal Center, Yokohama City University Medical Center, Yokohama, Japan.
Department of Pediatrics, Graduate School of Medicine, Yokohama City University, Yokohama, Japan.
Hum Genome Var. 2024 Feb 29;11(1):10. doi: 10.1038/s41439-024-00266-z.
Nail-patella syndrome (NPS) is a hereditary disease caused by pathogenic variants in LMX1B and characterized by nail, limb, and renal symptoms. This study revealed a likely pathogenic LMX1B variant, NM_002316.4: c.723_726delinsC (p.Ser242del), in Japanese twins with clubfoot. The patients' mother, who shared this variant, developed proteinuria after delivery. p.Ser242del is located in the homeodomain of the protein, in which variants that cause renal disease tend to cluster. Our findings highlight p.Ser242del as a likely pathogenic variant, expanding our knowledge of NPS.
指甲-髌骨综合征（NPS）是一种由LMX1B基因的致病变异引起的遗传性疾病，其特征为指甲、肢体和肾脏症状。本研究在患有马蹄内翻足的日本双胞胎中发现了一个可能致病的LMX1B变异，NM_002316.4:c.723_726delinsC（p.Ser242del）。携带该变异的患者母亲在分娩后出现了蛋白尿。p.Ser242del位于该蛋白质的同源结构域，导致肾脏疾病的变异往往聚集于此。我们的研究结果突出了p.Ser242del作为一个可能的致病变异，扩展了我们对NPS的认识。
