LHX2 encodes a LIM-domain containing homeobox transcription factor that is highly expressed in the brain. LHX2 has been shown to be an important transcriptional regulator of neuronal cell fate specification.
Variants in LHX2 are rare and usually occur de novo, although at least one variant has been reported to be inherited from a mildly affected parent.
The mutational spectrum includes whole gene deletions, likely-gene disrupting stop and frameshift variants as well as missense variants. Functional studies showed likely loss-of-function effects for several missense variants, and haploinsufficiency has been shown to be the most likely disease mechanism (Schmid, Gregor et al., 2023).
LHX2