TL;DR
PPGL in children and adolescents presents a strong hereditary predisposition; SDHB and VHL germline variants lead to distinctly divergent clinical phenotypes.
This is the first report of concurrent CAIS and NF1, which enriches and expands the genotypic and phenotypic spectra of both disorders.
In this referral cohort, PPNAD/CNC displays marked phenotypic variability, incomplete penetrance with subclinical cortisol excess, and diverse molecular mechanisms, including novel germline variants and somatic second hits.
“hemiconvulsion-hemiplegia-epilepsy syndrome” is identified as a distinct feature and potential prognostic indicator for middle domain variants in DNM1L variants, which are predominantly missense, with the middle domain as a hotspot.
SCN1A-confirmed DS is associated with substantial seizure burden and neurodevelopmental morbidity, and delayed molecular diagnosis may lead to inappropriate treatment exposure and seizure worsening.
By incorporating growth data from childhood, this study construct sex-specific growth curves and provide a precise reference for the evaluation of growth abnormalities in pediatric NF1, and expands the current understanding of phenotypic heterogeneity and genotype-phenotype correlations in pediatric NF1.
The c.394C>G compound heterozygous variants of the MED25 gene probably underlay the pathogenesis of BVSYS in this child, and was predicted to be deleterious by in silico analysis.
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