TABLE 3.
CHD7 and neurogenesis.
System | Neurons affected | Potential downstream targets of CHD7 | Association with CHARGE phenotype |
---|---|---|---|
Cerebellum | Reduction in cerebellar granule neurons | Reln, Fgf8 | Cerebellar hypoplasia leading to developmental delays |
Global brain | Reduction in GABAergic neurons | paqr3b | Autism-like behavior, attention-deficit/hyperactivity disorder, anxiety, aggressivity and seizures |
Hippocampus | Decrease in adult neurogenesis from subventricular zone (SVZ) of the lateral ventricle and the subgranular zone (SGZ) of the dentate gyrus | Sox4, Sox11 | Development delays |
Hypothalamus | Reduced gonadotropin-releasing hormone (GnRH) neurons | Fgfr1,Bmp4, Otx2 | Hypogonads, genital hypoplasia, and delayed puberty |
Olfactory | Reduced olfactory bulb size and reduced olfactory neurons | Mash1, NeuroD | Hyposmia and Anosmia |
Auditory and vestibular | Vestibulo-cochlear ganglion size and neuron number | Ngn1, Otx2, Fgf10 | Hearing loss and balance disorders |