{Reference Type}: Case Reports
{Title}: A Novel PGAP3 Gene Mutation-Related Megalocornea Can Be Misdiagnosed as Primary Congenital Glaucoma.
{Author}: Alhaidari AI;Albakri AS;Alhumaidi SS;Alhaidari AI;Albakri AS;Alhumaidi SS;
{Journal}: Cureus
{Volume}: 14
{Issue}: 9
{Year}: Sep 2022
暂无{DOI}: 10.7759/cureus.29387
{Abstract}: Hyperphosphatasia with mental retardation syndrome 4 (HPMRS4) is a rare autosomal recessive disorder caused by glycosylphosphatidylinositol (GPI) deficiency. GPI deficiency results from a mutation in one of six known genes. Mutation in post-GPI attachment to protein phospholipase 3 gene (PGAP3) is linked to HPMRS4. Patients usually present with dysmorphic features, developmental delay, central hypotonia, and seizure. However, in our case, we report a novel homozygous missense mutation of PGAP3 gene in a female child who presented with megalocornea, which is an unusual clinical presentation for HPMRS4. Megalocornea, in her first days of life, led to a misdiagnosis of primary congenital glaucoma. Later, other common clinical features of HPMRS4 became apparent.