1.
Clin Genet
; 98(5): 468-476, 2020 11.
Article
in English
| MEDLINE
| ID: mdl-32725661
ABSTRACT
PIGT is one of over 29 glycosylphosphatidylinositol biosynthesis defect genes. Mutations cause genetically determined disorders characterized mainly by epilepsy with fever-sensitivity, central hypotonia, psychomotor delay and congenital malformations. The disease is known as multiple congenital anomalies-hypotonia-seizures syndrome 3 (MCAHS3) or glycosylphosphatidylinositol biosynthesis defect-7. Twenty-eight cases have been reported until today. We present seven novel Polish patients, all harboring 1582G>A variant in a homozygous or compound heterozygous state which seems to cause a milder phenotype of the disease.
Subject(s)
Acyltransferases/genetics , Epilepsy/genetics , Glycosylphosphatidylinositols/deficiency , Intellectual Disability/genetics , Psychomotor Disorders/genetics , Seizures/genetics , Child , Child, Preschool , Developmental Disabilities/complications , Developmental Disabilities/genetics , Developmental Disabilities/pathology , Epilepsy/complications , Epilepsy/pathology , Female , Flow Cytometry , Glycosylphosphatidylinositols/genetics , Homozygote , Humans , Infant , Intellectual Disability/complications , Intellectual Disability/pathology , Male , Mutation/genetics , Nervous System Malformations/complications , Nervous System Malformations/genetics , Nervous System Malformations/pathology , Pedigree , Phenotype , Poland , Psychomotor Disorders/pathology , Seizures/complications , Seizures/pathology
2.
J Cardiovasc Comput Tomogr
; 14(6): e97-e98, 2020.
Article
in English
| MEDLINE
| ID: mdl-30509775
Subject(s)
Calcinosis/diagnostic imaging , Calcinosis/surgery , Multidetector Computed Tomography , Pericardiectomy , Pericarditis, Constrictive/diagnostic imaging , Pericarditis, Constrictive/surgery , Surgery, Computer-Assisted , Calcinosis/complications , Humans , Male , Middle Aged , Pericarditis, Constrictive/etiology , Predictive Value of Tests , Treatment Outcome
3.
Kardiol Pol
; 75(11): 1208, 2017.
Article
in English
| MEDLINE
| ID: mdl-29589378