Identification of a novel mutation in RBM10 gene: A case report of TARP syndrome with deletion mutation
Background: RNA-binding motif protein 10 plays a crucial role in RNA splicing and is implicated in various human diseases, including Tracheoesophageal-Absent Radius-Polydactyly syndrome. Previously considered universally fatal in the early neonatal period, recent cases have demonstrated patients sur...
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| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Elsevier
2025-07-01
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| Series: | Heliyon |
| Subjects: | |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S2405844025019632 |
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| Summary: | Background: RNA-binding motif protein 10 plays a crucial role in RNA splicing and is implicated in various human diseases, including Tracheoesophageal-Absent Radius-Polydactyly syndrome. Previously considered universally fatal in the early neonatal period, recent cases have demonstrated patients surviving beyond this stage. To date, no case reports have been published regarding Tracheoesophageal-Absent Radius-Polydactyly syndrome caused by gross deletions in the RNA-binding motif protein 10 gene. Case Description: We report the case of a full-term male infant, delivered vaginally, who initially exhibited typical development. At one month of age, the patient was presented with tremors, poor auditory responsiveness, impaired visual tracking, and MRI findings suggestive of a Blake Pouch cyst. His neonatal period was complicated by sepsis, respiratory failure, and pneumonia, necessitating a 22-day hospitalization. By 2 years and 7 months, the patient exhibited developmental delays, increased limb muscle tone, and difficulties with head control. Physical examination revealed distinctive facial features, low-set ears, and abnormal ear texture. Genetic analysis revealed a significant hemizygous deletion in the RBM10 gene, specifically GRCh38. chrX: NC_000023.11:g.47181767_47185106delinsTGTTCTTCAAAATAGC (NM_005676.5: c.1594_2002delinsTGTTCTTCAAAATAGC, p.Pro532_Gln930delins CysSerSerLys?). Conclusions: This study uncovers a novel mutation in the RNA-binding motif protein 10 gene, broadening our understanding of its genetic profile. This genetic alteration is linked to Tracheoesophageal-Absent Radius-Polydactyly syndrome, providing new insights into the spectrum of pathogenic variations within the RNA-binding motif protein 10 gene. |
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| ISSN: | 2405-8440 |