Case report: dual diagnosis of Mulibrey nanism and Jacobs syndrome in an Indian boy
Abstract Background Mulibrey-Nanism (Muscle-liver-brain-eye Nanism = dwarfism; MUL) is a rare genetic syndrome caused by TRIM37 gene variants characterized by growth failure, dysmorphic features and congestive heart failure. We report a 6-year-old boy with Mulibrey nanism and Jacobs syndrome who was...
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SpringerOpen
2025-04-01
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| Series: | Egyptian Journal of Medical Human Genetics |
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| Online Access: | https://doi.org/10.1186/s43042-025-00694-8 |
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| author | Pritti Kumari Rohina Aggarwal Akshi Valodara Hetvi Patel Dipak Dhoriya Ankita Suthar Somesh Aggarwal |
| author_facet | Pritti Kumari Rohina Aggarwal Akshi Valodara Hetvi Patel Dipak Dhoriya Ankita Suthar Somesh Aggarwal |
| author_sort | Pritti Kumari |
| collection | DOAJ |
| description | Abstract Background Mulibrey-Nanism (Muscle-liver-brain-eye Nanism = dwarfism; MUL) is a rare genetic syndrome caused by TRIM37 gene variants characterized by growth failure, dysmorphic features and congestive heart failure. We report a 6-year-old boy with Mulibrey nanism and Jacobs syndrome who was referred to us on suspicion of some genetic syndrome. Case description A 6-year-old boy was referred for genetic evaluation with a suspected diagnosis of Silver-Russell syndrome. Comprehensive genetic analysis of the proband was conducted using both classical and modern techniques, including karyotyping, chromosomal microarray (CMA), and whole exome sequencing (WES). G-banding chromosomal analysis revealed a mosaic pattern of 47,XYY[25]/46,XY[25], indicative of Jacobs syndrome. Further analysis with CMA identified a pathogenic mosaic gain of Y chromosome consistent with the karyotype results; no other pathogenic copy number variants were observed. Finally, WES revealed a nonsense homozygous variant c.586C > T in the TRIM37 gene which is causative of Mulibrey nanism. Conclusion This case marks the first documented instance in India of the co-occurrence of Mulibrey nanism and Jacobs syndrome, adding significant insights into the genetic diversity and clinical presentation of these conditions. The study highlights the importance of various genetic tests to diagnose rare genetic syndromes with overlapping phenotype. |
| format | Article |
| id | doaj-art-e65a1aa038ee480c9a32cb5d9f46c3a5 |
| institution | OA Journals |
| issn | 2090-2441 |
| language | English |
| publishDate | 2025-04-01 |
| publisher | SpringerOpen |
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| series | Egyptian Journal of Medical Human Genetics |
| spelling | doaj-art-e65a1aa038ee480c9a32cb5d9f46c3a52025-08-20T02:25:40ZengSpringerOpenEgyptian Journal of Medical Human Genetics2090-24412025-04-012611710.1186/s43042-025-00694-8Case report: dual diagnosis of Mulibrey nanism and Jacobs syndrome in an Indian boyPritti Kumari0Rohina Aggarwal1Akshi Valodara2Hetvi Patel3Dipak Dhoriya4Ankita Suthar5Somesh Aggarwal6Genetics Division, Department of Obstetrics and Gynecology, Institute of Kidney Diseases and Research Centre, Dr. HL Trivedi Institute of Transplantation Sciences (IKDRC-ITS)Department of Obstetrics and Gynecology, Institute of Kidney Diseases and Research Centre, Dr. HL Trivedi Institute of Transplantation Sciences (IKDRC-ITS)Genetics Division, Department of Obstetrics and Gynecology, Institute of Kidney Diseases and Research Centre, Dr. HL Trivedi Institute of Transplantation Sciences (IKDRC-ITS)Genetics Division, Department of Obstetrics and Gynecology, Institute of Kidney Diseases and Research Centre, Dr. HL Trivedi Institute of Transplantation Sciences (IKDRC-ITS)Genetics Division, Department of Obstetrics and Gynecology, Institute of Kidney Diseases and Research Centre, Dr. HL Trivedi Institute of Transplantation Sciences (IKDRC-ITS)Genetics Division, Department of Obstetrics and Gynecology, Institute of Kidney Diseases and Research Centre, Dr. HL Trivedi Institute of Transplantation Sciences (IKDRC-ITS)Department of Opthalmology, M & J Regional Institute of OphthalmologyAbstract Background Mulibrey-Nanism (Muscle-liver-brain-eye Nanism = dwarfism; MUL) is a rare genetic syndrome caused by TRIM37 gene variants characterized by growth failure, dysmorphic features and congestive heart failure. We report a 6-year-old boy with Mulibrey nanism and Jacobs syndrome who was referred to us on suspicion of some genetic syndrome. Case description A 6-year-old boy was referred for genetic evaluation with a suspected diagnosis of Silver-Russell syndrome. Comprehensive genetic analysis of the proband was conducted using both classical and modern techniques, including karyotyping, chromosomal microarray (CMA), and whole exome sequencing (WES). G-banding chromosomal analysis revealed a mosaic pattern of 47,XYY[25]/46,XY[25], indicative of Jacobs syndrome. Further analysis with CMA identified a pathogenic mosaic gain of Y chromosome consistent with the karyotype results; no other pathogenic copy number variants were observed. Finally, WES revealed a nonsense homozygous variant c.586C > T in the TRIM37 gene which is causative of Mulibrey nanism. Conclusion This case marks the first documented instance in India of the co-occurrence of Mulibrey nanism and Jacobs syndrome, adding significant insights into the genetic diversity and clinical presentation of these conditions. The study highlights the importance of various genetic tests to diagnose rare genetic syndromes with overlapping phenotype.https://doi.org/10.1186/s43042-025-00694-8MulibreyJacobs syndromeWhole exome sequencingKaryotype |
| spellingShingle | Pritti Kumari Rohina Aggarwal Akshi Valodara Hetvi Patel Dipak Dhoriya Ankita Suthar Somesh Aggarwal Case report: dual diagnosis of Mulibrey nanism and Jacobs syndrome in an Indian boy Egyptian Journal of Medical Human Genetics Mulibrey Jacobs syndrome Whole exome sequencing Karyotype |
| title | Case report: dual diagnosis of Mulibrey nanism and Jacobs syndrome in an Indian boy |
| title_full | Case report: dual diagnosis of Mulibrey nanism and Jacobs syndrome in an Indian boy |
| title_fullStr | Case report: dual diagnosis of Mulibrey nanism and Jacobs syndrome in an Indian boy |
| title_full_unstemmed | Case report: dual diagnosis of Mulibrey nanism and Jacobs syndrome in an Indian boy |
| title_short | Case report: dual diagnosis of Mulibrey nanism and Jacobs syndrome in an Indian boy |
| title_sort | case report dual diagnosis of mulibrey nanism and jacobs syndrome in an indian boy |
| topic | Mulibrey Jacobs syndrome Whole exome sequencing Karyotype |
| url | https://doi.org/10.1186/s43042-025-00694-8 |
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