PGAP3 Associated with Hyperphosphatasia with Mental Retardation Plays a Novel Role in Brain Morphogenesis and Neuronal Wiring at Early Development

PGAP3 Associated with Hyperphosphatasia with Mental Retardation Plays a Novel Role in Brain Morphogenesis and Neuronal Wiring at Early Development

<p dir="ltr">Recessive mutations in Post-GPI attachment to proteins 3 (PGAP3) cause the rare neurological disorder hyperphosphatasia with mental retardation syndrome 4 type (HPMRS4). Here, we report a novel homozygous nonsense mutation in PGAP3 (c.265C>T-p.Gln89*), in a 3-year-old...

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Bibliographic Details
Main Author: Sahar I. Da’as (9631717) (author)
Other Authors: Waleed Aamer (14056969) (author), Waseem Hasan (17280670) (author), Aljazi Al-Maraghi (14056975) (author), Alya Al-Kurbi (18543970) (author), Houda Kilani (18543973) (author), Jehan AlRayahi (17346976) (author), Khaled Zamel (17563101) (author), Mitchell A. Stotland (15220174) (author), Khalid A. Fakhro (3158862) (author)
Published: 2020
Subjects:
Biological sciences
Genetics
Biomedical and clinical sciences
Neurosciences
hyperphosphatasia mental retardation syndrome 4 (HPMRS4)
post-GPI attachment to proteins 3 (PGAP3)
neurological disorder
human disease model
zebrafish
neural tube defect
whole genome sequencing
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