Identification of De Novo Radio-Tartaglia Syndrome and Comparison of Clinical and Molecular Characteristics with Those of 1p36 Deletion Syndrome
Purpose Radio-Tartaglia syndrome (RTS; Mendelian Inheritance in Man [MIM]: 619312) is a rare neurodevelopmental disorder with few reported cases and limited research. It has recently been reported that the clinical features of RTS overlap with those of 1p36 deletion syndrome (1p36DS), a common chrom...
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Korean Child Neurology Society
2025-01-01
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| Series: | Annals of Child Neurology |
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| Online Access: | http://annchildneurol.org/upload/pdf/acn-2024-00717.pdf |
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| author | Hyun-Young Kim Jeehun Lee Ja-Hyun Jang Jong-Won Kim Jiwon Lee Mi-Ae Jang |
| author_facet | Hyun-Young Kim Jeehun Lee Ja-Hyun Jang Jong-Won Kim Jiwon Lee Mi-Ae Jang |
| author_sort | Hyun-Young Kim |
| collection | DOAJ |
| description | Purpose Radio-Tartaglia syndrome (RTS; Mendelian Inheritance in Man [MIM]: 619312) is a rare neurodevelopmental disorder with few reported cases and limited research. It has recently been reported that the clinical features of RTS overlap with those of 1p36 deletion syndrome (1p36DS), a common chromosomal deletion characterized by clinical and molecular heterogeneity. This study aims to report on a Korean patient with RTS and compare the clinical and molecular features with those of patients with 1p36DS. Methods A 3-year-old boy was brought to the hospital and underwent whole genome sequencing to evaluate developmental delay and multiple anomalies. This led to the identification of a de novo truncating variant in SPEN. We retrospectively investigated cases of 1p36DS that were either newly diagnosed at our institution or previously reported in the literature and databases. Results The clinical profile of RTS includes developmental delay/intellectual disability, hypotonia, feeding difficulties, congenital heart defects, and facial dysmorphisms. SPEN is frequently found within the deleted region associated with 1p36DS. However, in all reported Korean cases of 1p36DS, the deletions were distal and did not involve SPEN; despite this, the clinical features of the disorder overlap considerably with those of RTS. Conclusion SPEN is a newly identified gene that plays a role in various developmental processes. Therefore, it is essential to include SPEN in genetic testing when diagnosing patients suspected of having a neurodevelopmental disorder. Additional research is required to explore the molecular and clinical features, as well as the prognosis, of patients with either an isolated SPEN mutation or one that co-occurs with 1p36DS. |
| format | Article |
| id | doaj-art-64b6bc0726264c748e3e591a44cc00f6 |
| institution | DOAJ |
| issn | 2635-909X 2635-9103 |
| language | English |
| publishDate | 2025-01-01 |
| publisher | Korean Child Neurology Society |
| record_format | Article |
| series | Annals of Child Neurology |
| spelling | doaj-art-64b6bc0726264c748e3e591a44cc00f62025-08-20T02:39:59ZengKorean Child Neurology SocietyAnnals of Child Neurology2635-909X2635-91032025-01-0133181510.26815/acn.2024.007171387Identification of De Novo Radio-Tartaglia Syndrome and Comparison of Clinical and Molecular Characteristics with Those of 1p36 Deletion SyndromeHyun-Young Kim0Jeehun Lee1Ja-Hyun Jang2Jong-Won Kim3Jiwon Lee4Mi-Ae Jang5 Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, KoreaPurpose Radio-Tartaglia syndrome (RTS; Mendelian Inheritance in Man [MIM]: 619312) is a rare neurodevelopmental disorder with few reported cases and limited research. It has recently been reported that the clinical features of RTS overlap with those of 1p36 deletion syndrome (1p36DS), a common chromosomal deletion characterized by clinical and molecular heterogeneity. This study aims to report on a Korean patient with RTS and compare the clinical and molecular features with those of patients with 1p36DS. Methods A 3-year-old boy was brought to the hospital and underwent whole genome sequencing to evaluate developmental delay and multiple anomalies. This led to the identification of a de novo truncating variant in SPEN. We retrospectively investigated cases of 1p36DS that were either newly diagnosed at our institution or previously reported in the literature and databases. Results The clinical profile of RTS includes developmental delay/intellectual disability, hypotonia, feeding difficulties, congenital heart defects, and facial dysmorphisms. SPEN is frequently found within the deleted region associated with 1p36DS. However, in all reported Korean cases of 1p36DS, the deletions were distal and did not involve SPEN; despite this, the clinical features of the disorder overlap considerably with those of RTS. Conclusion SPEN is a newly identified gene that plays a role in various developmental processes. Therefore, it is essential to include SPEN in genetic testing when diagnosing patients suspected of having a neurodevelopmental disorder. Additional research is required to explore the molecular and clinical features, as well as the prognosis, of patients with either an isolated SPEN mutation or one that co-occurs with 1p36DS.http://annchildneurol.org/upload/pdf/acn-2024-00717.pdfchromosome 1p36 deletion syndromehaploinsufficiencyintellectual disabilityspen protein, humanwhole genome sequencing |
| spellingShingle | Hyun-Young Kim Jeehun Lee Ja-Hyun Jang Jong-Won Kim Jiwon Lee Mi-Ae Jang Identification of De Novo Radio-Tartaglia Syndrome and Comparison of Clinical and Molecular Characteristics with Those of 1p36 Deletion Syndrome Annals of Child Neurology chromosome 1p36 deletion syndrome haploinsufficiency intellectual disability spen protein, human whole genome sequencing |
| title | Identification of De Novo Radio-Tartaglia Syndrome and Comparison of Clinical and Molecular Characteristics with Those of 1p36 Deletion Syndrome |
| title_full | Identification of De Novo Radio-Tartaglia Syndrome and Comparison of Clinical and Molecular Characteristics with Those of 1p36 Deletion Syndrome |
| title_fullStr | Identification of De Novo Radio-Tartaglia Syndrome and Comparison of Clinical and Molecular Characteristics with Those of 1p36 Deletion Syndrome |
| title_full_unstemmed | Identification of De Novo Radio-Tartaglia Syndrome and Comparison of Clinical and Molecular Characteristics with Those of 1p36 Deletion Syndrome |
| title_short | Identification of De Novo Radio-Tartaglia Syndrome and Comparison of Clinical and Molecular Characteristics with Those of 1p36 Deletion Syndrome |
| title_sort | identification of de novo radio tartaglia syndrome and comparison of clinical and molecular characteristics with those of 1p36 deletion syndrome |
| topic | chromosome 1p36 deletion syndrome haploinsufficiency intellectual disability spen protein, human whole genome sequencing |
| url | http://annchildneurol.org/upload/pdf/acn-2024-00717.pdf |
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