ObjectiveTo investigate the relationship between PIGA gene mutation and early-onset epileptic encephalopathy (EOEE).MethodsThe clinical materials of a EOEE children with PIGA gene mutation who admitted to Guangdong Sanjiu Brain Hosipital Epilepsy Pediatric in March 2016 were retrospectively analyzed. The databases of Wanfang, CNKI and PubMed were also reviewed to give a summary.ResultsThe child’s onset age was before 1-year-old, who has a family history of epilepsy. Electrophysiological and clinical diagnosis were EOEE, auxiliary examination of genetic metabolism, urine organic acids, blood biochemistry and other tests showed no abnormalities. Epilepsy gene detection found that PIGA gene has a new missense mutation, in line with the X-linked inheritance. The mutations leading to EOEE has been reported in foreign literature, but rarely reported in China.ConclusionThe new mutations of X-linked PIGA gene are more likely to be the causative genes of some.
ObjectiveTo identify two pathogenic gene mutations in two families with Alström syndrome (ALMS). MethodsA retrospective clinical study. Two patients and five family members from two Han families of ALMS diagnosed at Henan Eye Hospital from August 2020 to December 2021 were enrolled in this study. All participants underwent comprehensive ophthalmic examinations including best corrected visual acuity (BCVA), color test, slit-lamp, fundus biomicroscopy with slit lamp, fundus color photography, optical coherence tomography (OCT) and full-field electroretinography (ff-ERG) after the detailed history of the patient was taken. Five millilitres peripheral venous blood of each subject was collected, and the whole genome DNA was extracted. The pathogenic genes and mutation sites were identified using whole exome sequencing and the identified mutations were verified by Sanger sequencing. Mutation sites were analyzed via bioinformatics softwares. ResultsFamily one included one victim and two members and family two included one victim and three members. Proband in the first family was a four-year old boy whose chief complaint was poor vision along with photophobia since born, while proband in the second family was a 12-year old girl whose chief complaint was the same. The boy proband could not distinguish color, and both the anterior segment and fundus were normal. Ellipsoid zone of the boy was unclear in both eyes in OCT, and though rod system function decreased mildly-moderately in both eyes, the cone system function decreased severely in ff-ERG. The girl could not distinguish color as well, and the anterior segment was normal, though obvious pigmentary change could be seen in both retinas. The integrity of outer retinal bands was unclear in both eyes in OCT, and both cone and rod systems function decreased severely in both eyes in ff-ERG. Gene tests and bioinformatics analyze showed c.468dupT and c.10819C>T of ALMS1 gene in family one were novel mutations and c.10819C>T in family one and c.10831_10832del in family two were pathogenic mutations. ConclusionsM1, M2 and M3, M4 may be pathogenic gene variants in family 1 and family 2, respectively. The compound heterozygous mutation, c.468dupT and c.10819C>T of ALMS1 gene was a novel mutation.