Ontology highlight
ABSTRACT:
SUBMITTER: Fleming L
PROVIDER: S-EPMC4886552 | biostudies-literature | 2016 Jan
REPOSITORIES: biostudies-literature
Fleming Leah L Lemmon Monica M Beck Natalie N Johnson Maria M Mu Weiyi W Murdock David D Bodurtha Joann J Hoover-Fong Julie J Cohn Ronald R Bosemani Thangamadhan T Barañano Kristin K Hamosh Ada A
American journal of medical genetics. Part A 20150923 1
Mutations in PIGN, resulting in multiple congenital anomalies-hypotonia-seizures syndrome, a glycosylphosphatidylinositol anchor deficiency, have been published in four families to date. We report four patients from three unrelated families with epilepsy and hypotonia in whom whole exome sequencing yielded compound heterozygous variants in PIGN. As with previous reports Patients 1 and 2 (full siblings) have severe global developmental delay, gastroesophageal reflux disease, and minor dysmorphic ...[more]