engleski

A novel PGAP3 mutation in a Croatian boy with brachytelephalangy and a thin corpus callosum

Biallelic mutations in the post-GPI attachment to proteins 3 (PGAP3) gene cause hyperphosphatasia with mental retardation syndrome 4 (HPMRS4), which is characterized by elevated serum alkaline phosphatase, severe psychomotor developmental delay, seizures, and facial dysmorphism. To date, 15 PGAP3 mutations have been reported in humans. Here we report a novel homozygous PGAP3mutation (c.314C>A, p.Pro105Gln) in a Croatian patient and fully describe the clinical features.

PGAP3 mutation ; brachytelephalangy ; corpus callosum

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