Gholson Lyon, MD PhD,
Principal Investigator Cold Spring Harbor Laboratory
Email: Lab website:

Areas of Interest: Developmental Biology, Genetics

Research focus:

My laboratory discovered a rare X-linked, infantile lethal Mendelian
disorder, comprised of a distinct combination of brain ventricular
dilation, hypotonia, developmental delays, and cardiac anomalies. It
was the first recognized instance of a human genetic disorder
involving a missense mutation in Naa10, encoding an enzyme involved in
the N-terminal acetylation (NTA) of proteins. Other families have also
now been reported with different mutations in Naa10 and variable
amounts of brain ventricular dilation and/or frank hydrocephaly. We
have also now generated several novel mouse models of this disease,
which also develop hydrocephaly, thus re-capitulating the human