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Article

PIGN mutations cause congenital anomalies, developmental delay, hypotonia, epilepsy, and progressive cerebellar atrophy.

Neurogenetics - 1 May 2014

Ohba Chihiro, Okamoto Nobuhiko, Murakami Yoshiko, Suzuki Yasuhiro, Tsurusaki Yoshinori, Nakashima Mitsuko, Miyake Noriko, Tanaka Fumiaki, Kinoshita Taroh, Matsumoto Naomichi, Saitsu Hirotomo

Abstract excerpt

Defects of the human glycosylphosphatidylinositol (GPI) anchor biosynthetic pathway show a broad range of clinical phenotypes. A homozygous mutation in PIGN, a member of genes involved in the GPI anchor-synthesis pathway, was previously reported to cause dysmorphic features, multiple congenital anomalies, severe neurological impairment, and seizure in a consanguineous family. Here, we report two affected siblings...

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CD24 Antigen
Cerebellar Diseases
Congenital Abnormalities
Developmental Disabilities
GPI-Linked Proteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Muscle Hypotonia

Phosphotransferases

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Identifiers

PMID: 24253414
DOI: 10.1007/s10048-013-0384-7

Genes

PIGN
GPI

Variants

Provenance

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PIGN mutations cause congenital anomalies, developmental delay, hypotonia, epilepsy, and progressive cerebellar atrophy.PMID 24253414Read ↗

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Multiple congenital anomalies-hypotonia-seizures syndrome is caused by a mutation in PIGN.Semantic proximity Read ↗

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