A novel ARCN1 splice-site variant in a Chinese girl with central precocious puberty, intrauterine growth restriction, microcephaly, and microretrognathia
Abstract The ARCN1 gene encodes the delta subunit of the coatomer protein complex I (COPI), which is essential for mediating protein transport from the Golgi complex to the endoplasmic reticulum. Variants in ARCN1 are associated with clinical features such as microcephaly, microretrognathia, intraut...
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BMC
2024-12-01
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| Series: | BMC Pediatrics |
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| Online Access: | https://doi.org/10.1186/s12887-024-05329-2 |
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| author | Guoying Chang Fan Yang Lingwen Ying Qianwen Zhang Biyun Feng Yao Chen Yu Ding Tingting Yu Ruen Yao Kana Lin Juan Li Xiumin Wang |
| author_facet | Guoying Chang Fan Yang Lingwen Ying Qianwen Zhang Biyun Feng Yao Chen Yu Ding Tingting Yu Ruen Yao Kana Lin Juan Li Xiumin Wang |
| author_sort | Guoying Chang |
| collection | DOAJ |
| description | Abstract The ARCN1 gene encodes the delta subunit of the coatomer protein complex I (COPI), which is essential for mediating protein transport from the Golgi complex to the endoplasmic reticulum. Variants in ARCN1 are associated with clinical features such as microcephaly, microretrognathia, intrauterine growth restriction, short rhizomelic stature, and developmental delays. We present a case of a patient exhibiting intrauterine growth restriction, preterm birth, microcephaly, micrognathia, and central precocious puberty. Whole-exome sequencing identified a novel splice-site variant, NM_001655.5: c.1241 + 1G > A, in the ARCN1 gene. To our knowledge, this is the first documented case of ARCN1-related syndrome associated with central precocious puberty, contributing to the understanding of the disease phenotype. |
| format | Article |
| id | doaj-art-e35c01a72c684b0ebd948c6837286383 |
| institution | Kabale University |
| issn | 1471-2431 |
| language | English |
| publishDate | 2024-12-01 |
| publisher | BMC |
| record_format | Article |
| series | BMC Pediatrics |
| spelling | doaj-art-e35c01a72c684b0ebd948c68372863832025-02-02T12:43:02ZengBMCBMC Pediatrics1471-24312024-12-012411810.1186/s12887-024-05329-2A novel ARCN1 splice-site variant in a Chinese girl with central precocious puberty, intrauterine growth restriction, microcephaly, and microretrognathiaGuoying Chang0Fan Yang1Lingwen Ying2Qianwen Zhang3Biyun Feng4Yao Chen5Yu Ding6Tingting Yu7Ruen Yao8Kana Lin9Juan Li10Xiumin Wang11Department of Endocrinology and Metabolism, Shanghai Children’s Medical Center, School of Medicine, Shanghai Jiao Tong UniversityDepartment of Clinical Research Ward, Shanghai Children’s Medical Center, School of Medicine, Shanghai Jiao Tong UniversityDepartment of Endocrinology and Metabolism, Shanghai Children’s Medical Center, School of Medicine, Shanghai Jiao Tong UniversityDepartment of Endocrinology and Metabolism, Shanghai Children’s Medical Center, School of Medicine, Shanghai Jiao Tong UniversityDepartment of Endocrinology and Metabolism, Shanghai Children’s Medical Center, School of Medicine, Shanghai Jiao Tong UniversityDepartment of Endocrinology and Metabolism, Shanghai Children’s Medical Center, School of Medicine, Shanghai Jiao Tong UniversityDepartment of Endocrinology and Metabolism, Shanghai Children’s Medical Center, School of Medicine, Shanghai Jiao Tong UniversityDepartment of Medical Genetics and Molecular Diagnostics laboratory, Shanghai Children’s Medical Center, School of Medicine, Shanghai Jiao Tong UniversityDepartment of Medical Genetics and Molecular Diagnostics laboratory, Shanghai Children’s Medical Center, School of Medicine, Shanghai Jiao Tong UniversityDepartment of Clinical Research Center, Shanghai Children’s Medical Center, School of Medicine, Shanghai Jiao Tong UniversityDepartment of Endocrinology and Metabolism, Shanghai Children’s Medical Center, School of Medicine, Shanghai Jiao Tong UniversityDepartment of Endocrinology and Metabolism, Shanghai Children’s Medical Center, School of Medicine, Shanghai Jiao Tong UniversityAbstract The ARCN1 gene encodes the delta subunit of the coatomer protein complex I (COPI), which is essential for mediating protein transport from the Golgi complex to the endoplasmic reticulum. Variants in ARCN1 are associated with clinical features such as microcephaly, microretrognathia, intrauterine growth restriction, short rhizomelic stature, and developmental delays. We present a case of a patient exhibiting intrauterine growth restriction, preterm birth, microcephaly, micrognathia, and central precocious puberty. Whole-exome sequencing identified a novel splice-site variant, NM_001655.5: c.1241 + 1G > A, in the ARCN1 gene. To our knowledge, this is the first documented case of ARCN1-related syndrome associated with central precocious puberty, contributing to the understanding of the disease phenotype.https://doi.org/10.1186/s12887-024-05329-2ARCN1-related syndromeARCN1 variantCentral precocious puberty |
| spellingShingle | Guoying Chang Fan Yang Lingwen Ying Qianwen Zhang Biyun Feng Yao Chen Yu Ding Tingting Yu Ruen Yao Kana Lin Juan Li Xiumin Wang A novel ARCN1 splice-site variant in a Chinese girl with central precocious puberty, intrauterine growth restriction, microcephaly, and microretrognathia BMC Pediatrics ARCN1-related syndrome ARCN1 variant Central precocious puberty |
| title | A novel ARCN1 splice-site variant in a Chinese girl with central precocious puberty, intrauterine growth restriction, microcephaly, and microretrognathia |
| title_full | A novel ARCN1 splice-site variant in a Chinese girl with central precocious puberty, intrauterine growth restriction, microcephaly, and microretrognathia |
| title_fullStr | A novel ARCN1 splice-site variant in a Chinese girl with central precocious puberty, intrauterine growth restriction, microcephaly, and microretrognathia |
| title_full_unstemmed | A novel ARCN1 splice-site variant in a Chinese girl with central precocious puberty, intrauterine growth restriction, microcephaly, and microretrognathia |
| title_short | A novel ARCN1 splice-site variant in a Chinese girl with central precocious puberty, intrauterine growth restriction, microcephaly, and microretrognathia |
| title_sort | novel arcn1 splice site variant in a chinese girl with central precocious puberty intrauterine growth restriction microcephaly and microretrognathia |
| topic | ARCN1-related syndrome ARCN1 variant Central precocious puberty |
| url | https://doi.org/10.1186/s12887-024-05329-2 |
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