A deletion variant in LMX1B causing nail–patella syndrome in Japanese twins
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’...
| Main Authors: | , , , , , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Nature Publishing Group
2024-02-01
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| Series: | Human Genome Variation |
| Online Access: | https://doi.org/10.1038/s41439-024-00266-z |
| _version_ | 1797275360171130880 |
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| author | Nozomu Kishio Kazuhiro Iwama Sayuri Nakanishi Ryosuke Shindo Masaki Yasui Naoki Nicho Atsushi Takahashi Mana Kohara Michisato Hirata Takahiro Kemmotsu Miki Tanoshima Shuichi Ito |
| author_facet | Nozomu Kishio Kazuhiro Iwama Sayuri Nakanishi Ryosuke Shindo Masaki Yasui Naoki Nicho Atsushi Takahashi Mana Kohara Michisato Hirata Takahiro Kemmotsu Miki Tanoshima Shuichi Ito |
| author_sort | Nozomu Kishio |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-03-07T15:12:13Z |
| format | Article |
| id | doaj.art-9ad4f991a0e44c83be14b3b162faedc1 |
| institution | Directory Open Access Journal |
| issn | 2054-345X |
| language | English |
| last_indexed | 2024-03-07T15:12:13Z |
| publishDate | 2024-02-01 |
| publisher | Nature Publishing Group |
| record_format | Article |
| series | Human Genome Variation |
| spelling | doaj.art-9ad4f991a0e44c83be14b3b162faedc12024-03-05T18:06:28ZengNature Publishing GroupHuman Genome Variation2054-345X2024-02-011111310.1038/s41439-024-00266-zA deletion variant in LMX1B causing nail–patella syndrome in Japanese twinsNozomu Kishio0Kazuhiro Iwama1Sayuri Nakanishi2Ryosuke Shindo3Masaki Yasui4Naoki Nicho5Atsushi Takahashi6Mana Kohara7Michisato Hirata8Takahiro Kemmotsu9Miki Tanoshima10Shuichi Ito11Department of Maternal and Perinatal Center, Yokohama City University Medical CenterDepartment of Maternal and Perinatal Center, Yokohama City University Medical CenterDepartment of Maternal and Perinatal Center, Yokohama City University Medical CenterDepartment of Maternal and Perinatal Center, Yokohama City University Medical CenterDepartment of Maternal and Perinatal Center, Yokohama City University Medical CenterDepartment of Maternal and Perinatal Center, Yokohama City University Medical CenterDepartment of Maternal and Perinatal Center, Yokohama City University Medical CenterDepartment of Maternal and Perinatal Center, Yokohama City University Medical CenterDepartment of Maternal and Perinatal Center, Yokohama City University Medical CenterDepartment of Maternal and Perinatal Center, Yokohama City University Medical CenterDepartment of Maternal and Perinatal Center, Yokohama City University Medical CenterDepartment of Pediatrics, Graduate School of Medicine, Yokohama City UniversityAbstract 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.https://doi.org/10.1038/s41439-024-00266-z |
| spellingShingle | Nozomu Kishio Kazuhiro Iwama Sayuri Nakanishi Ryosuke Shindo Masaki Yasui Naoki Nicho Atsushi Takahashi Mana Kohara Michisato Hirata Takahiro Kemmotsu Miki Tanoshima Shuichi Ito A deletion variant in LMX1B causing nail–patella syndrome in Japanese twins Human Genome Variation |
| title | A deletion variant in LMX1B causing nail–patella syndrome in Japanese twins |
| title_full | A deletion variant in LMX1B causing nail–patella syndrome in Japanese twins |
| title_fullStr | A deletion variant in LMX1B causing nail–patella syndrome in Japanese twins |
| title_full_unstemmed | A deletion variant in LMX1B causing nail–patella syndrome in Japanese twins |
| title_short | A deletion variant in LMX1B causing nail–patella syndrome in Japanese twins |
| title_sort | deletion variant in lmx1b causing nail patella syndrome in japanese twins |
| url | https://doi.org/10.1038/s41439-024-00266-z |
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