Ontology highlight
ABSTRACT:
SUBMITTER: Khayat M
PROVIDER: S-EPMC5635853 | biostudies-literature | 2016 Jan
REPOSITORIES: biostudies-literature
Khayat Morad M Tilghman Joseph Mark JM Chervinsky Ilana I Zalman Lucia L Chakravarti Aravinda A Shalev Stavit A SA
American journal of medical genetics. Part A 20150914 1
Mutations in the PIGN gene involved in the glycosylphoshatidylinositol (GPI) anchor biosynthesis pathway cause Multiple Congenital Anomalies-Hypotonia-Seizures syndrome 1 (MCAHS1). The syndrome manifests developmental delay, hypotonia, and epilepsy, combined with multiple congenital anomalies. We report on the identification of a homozygous novel c.755A>T (p.D252V) deleterious mutation in a patient with Israeli-Arab origin with MCAHS1. The mutated PIGN caused a significant decrease of the overal ...[more]