Your browser doesn't support javascript.
loading
A deletion variant in LMX1B causing nail-patella syndrome in Japanese twins.
Kishio, Nozomu; Iwama, Kazuhiro; Nakanishi, Sayuri; Shindo, Ryosuke; Yasui, Masaki; Nicho, Naoki; Takahashi, Atsushi; Kohara, Mana; Hirata, Michisato; Kemmotsu, Takahiro; Tanoshima, Miki; Ito, Shuichi.
Afiliación
  • Kishio N; Department of Maternal and Perinatal Center, Yokohama City University Medical Center, Yokohama, Japan. k.spera15@gmail.com.
  • Iwama K; Department of Pediatrics, Graduate School of Medicine, Yokohama City University, Yokohama, Japan. k.spera15@gmail.com.
  • Nakanishi S; Department of Maternal and Perinatal Center, Yokohama City University Medical Center, Yokohama, Japan. kiwama@yokohama-cu.ac.jp.
  • Shindo R; Department of Pediatrics, Graduate School of Medicine, Yokohama City University, Yokohama, Japan. kiwama@yokohama-cu.ac.jp.
  • Yasui M; Department of Clinical Genetics, Yokohama City University Medical Center, Yokohama, Japan. kiwama@yokohama-cu.ac.jp.
  • Nicho N; Department of Maternal and Perinatal Center, Yokohama City University Medical Center, Yokohama, Japan.
  • Takahashi A; Department of Clinical Genetics, Yokohama City University Medical Center, Yokohama, Japan.
  • Kohara M; Department of Maternal and Perinatal Center, Yokohama City University Medical Center, Yokohama, Japan.
  • Hirata M; Department of Clinical Genetics, Yokohama City University Medical Center, Yokohama, Japan.
  • Kemmotsu T; Department of Maternal and Perinatal Center, Yokohama City University Medical Center, Yokohama, Japan.
  • Tanoshima M; Department of Pediatrics, Graduate School of Medicine, Yokohama City University, Yokohama, Japan.
  • Ito S; Department of Maternal and Perinatal Center, Yokohama City University Medical Center, Yokohama, Japan.
Hum Genome Var ; 11(1): 10, 2024 Feb 29.
Article en En | MEDLINE | ID: mdl-38424113
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.
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Idioma: En Revista: Hum Genome Var Año: 2024 Tipo del documento: Article País de afiliación: Japón Pais de publicación: Reino Unido
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Idioma: En Revista: Hum Genome Var Año: 2024 Tipo del documento: Article País de afiliación: Japón Pais de publicación: Reino Unido