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- Title
A deletion variant in LMX1B causing nail–patella syndrome in Japanese twins.
- Authors
Kishio, Nozomu; Iwama, Kazuhiro; Nakanishi, Sayuri; Shindo, Ryosuke; Yasui, Masaki; Nicho, Naoki; Takahashi, Atsushi; Kohara, Mana; Hirata, Michisato; Kemmotsu, Takahiro; Tanoshima, Miki; Ito, Shuichi
- Abstract
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.
- Subjects
HOMEOBOX proteins; GENETIC disorders; SYNDROMES; KIDNEY diseases; CLUBFOOT
- Publication
Human Genome Variation, 2024, Vol 11, Issue 1, p1
- ISSN
2054-345X
- Publication type
Article
- DOI
10.1038/s41439-024-00266-z