The effect of growth hormone treatment in children with novel BPTF gene variants: A report of two cases and literature review
Abstract Background Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies (NEDDFL) is a rare neurodevelopmental disease caused by BPTF gene variants. To date, there are only 36 cases reported in the literature, and patients mainly presented with a developmental delay, language...
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| Format: | Article |
| Language: | English |
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Wiley
2023-01-01
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| Series: | Molecular Genetics & Genomic Medicine |
| Subjects: | |
| Online Access: | https://doi.org/10.1002/mgg3.2066 |
| _version_ | 1797955509815345152 |
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| author | Wenyong Wu Ruimin Chen |
| author_facet | Wenyong Wu Ruimin Chen |
| author_sort | Wenyong Wu |
| collection | DOAJ |
| description | Abstract Background Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies (NEDDFL) is a rare neurodevelopmental disease caused by BPTF gene variants. To date, there are only 36 cases reported in the literature, and patients mainly presented with a developmental delay, language delay, and microcephaly. About 35% of the patients had short stature, but there had no reports published on the treatment. Methods The exome sequencing was performed in two probands. Sanger sequencing was used to confirm the identified variants both in probands and their parents. Results As for the Chinese population, we report two novel variants in BPTF gene (NM_004459.6: c.1133G>A, c.5941delC) causing NEDDFL from two unrelated families. Both children had short stature and responded to recombinant human growth hormone (rhGH) treatment – the first report of this therapy in NEDDFL patients. Conclusion Our findings broaden the genotypic spectrum of BPTF variants. The salutary effect of rhGH in the NEDDFL is documented. |
| first_indexed | 2024-04-10T23:34:15Z |
| format | Article |
| id | doaj.art-b3f1785d0a0c468795e02878d0d320ce |
| institution | Directory Open Access Journal |
| issn | 2324-9269 |
| language | English |
| last_indexed | 2024-04-10T23:34:15Z |
| publishDate | 2023-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Molecular Genetics & Genomic Medicine |
| spelling | doaj.art-b3f1785d0a0c468795e02878d0d320ce2023-01-12T04:03:44ZengWileyMolecular Genetics & Genomic Medicine2324-92692023-01-01111n/an/a10.1002/mgg3.2066The effect of growth hormone treatment in children with novel BPTF gene variants: A report of two cases and literature reviewWenyong Wu0Ruimin Chen1Fuzhou Children's Hospital of Fujian Medical University Fuzhou Fujian ChinaFuzhou Children's Hospital of Fujian Medical University Fuzhou Fujian ChinaAbstract Background Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies (NEDDFL) is a rare neurodevelopmental disease caused by BPTF gene variants. To date, there are only 36 cases reported in the literature, and patients mainly presented with a developmental delay, language delay, and microcephaly. About 35% of the patients had short stature, but there had no reports published on the treatment. Methods The exome sequencing was performed in two probands. Sanger sequencing was used to confirm the identified variants both in probands and their parents. Results As for the Chinese population, we report two novel variants in BPTF gene (NM_004459.6: c.1133G>A, c.5941delC) causing NEDDFL from two unrelated families. Both children had short stature and responded to recombinant human growth hormone (rhGH) treatment – the first report of this therapy in NEDDFL patients. Conclusion Our findings broaden the genotypic spectrum of BPTF variants. The salutary effect of rhGH in the NEDDFL is documented.https://doi.org/10.1002/mgg3.2066BPTFcase reportNEDDFLrecombinant human growth hormoneshort stature |
| spellingShingle | Wenyong Wu Ruimin Chen The effect of growth hormone treatment in children with novel BPTF gene variants: A report of two cases and literature review Molecular Genetics & Genomic Medicine BPTF case report NEDDFL recombinant human growth hormone short stature |
| title | The effect of growth hormone treatment in children with novel BPTF gene variants: A report of two cases and literature review |
| title_full | The effect of growth hormone treatment in children with novel BPTF gene variants: A report of two cases and literature review |
| title_fullStr | The effect of growth hormone treatment in children with novel BPTF gene variants: A report of two cases and literature review |
| title_full_unstemmed | The effect of growth hormone treatment in children with novel BPTF gene variants: A report of two cases and literature review |
| title_short | The effect of growth hormone treatment in children with novel BPTF gene variants: A report of two cases and literature review |
| title_sort | effect of growth hormone treatment in children with novel bptf gene variants a report of two cases and literature review |
| topic | BPTF case report NEDDFL recombinant human growth hormone short stature |
| url | https://doi.org/10.1002/mgg3.2066 |
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