ReviewMolecular genetics & genomic medicine2023
The effect of growth hormone treatment in children with novel BPTF gene variants: A report of two cases and literature review.
Review in Molecular genetics & genomic medicine, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
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Who cites it
6 citing papers in PubMed, 10 citations in OpenAlex.
- Effects of the Missense Variants on Complete Phenotype and Splicing Variant on Severe Growth Retardation in the BPTF Gene.Developmental neurobiology · 2025Article
- Exome sequencing in Nigerian children with early-onset epilepsy syndromes.Epilepsia open · 2025Article
- Chemical Proteomic Profiling of Protein Dopaminylation in Colorectal Cancer Cells.Journal of proteome research · 2024Article
- A study on genotypes and phenotypes of short stature caused by epigenetic modification gene variants.European journal of pediatrics · 2024Article
- Functional screens refine height GWAS loci.Cell genomics · 2023Article
- 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 · 2023Review
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Authors and funding
2 authors at 1 institution in 1 country.
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No grant is acknowledged in the PubMed record.
Abstract
backgroundNeurodevelopmental 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.
methodsThe exome sequencing was performed in two probands. Sanger sequencing was used to confirm the identified variants both in probands and their parents.
resultsAs 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.
conclusionOur findings broaden the genotypic spectrum of BPTF variants. The salutary effect of rhGH in the NEDDFL is documented.
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