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 mu...

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Detalles Bibliográficos
Autores principales: Sakaguchi, Tomohiro, Žigman, Tamara, Petković Ramadža, Danijela, Omerza, Lana, Pušeljić, Silvija, Ereš Hrvaćanin, Zrinka, Miyake, Noriko, Matsumoto, Naomichi, Barić, Ivo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2018
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5842148/
https://www.ncbi.nlm.nih.gov/pubmed/29531774
http://dx.doi.org/10.1038/hgv.2018.5
Descripción
Sumario: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 PGAP3 mutation (c.314C>A, p.Pro105Gln) in a Croatian patient and fully describe the clinical features.

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