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.