Homozygous Phosphatidylinositol Glycan Class T Mutation in an Indian Girl With Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3.
| Autor: | Sai Chandar D; Pediatric Neurology, Star Women and Children Hospital, Karim Nagar, IND.; Pediatrics, Prathima Institute of Medical Sciences, Karim Nagar, IND., Krishna Chaithanya B; Pediatrics, Star Women and Children Hospital, Karim Nagar, IND., Prashanthi M; Pediatrics, Prathima Institute of Medical Sciences, Karim Nagar, IND. |
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| Jazyk: | angličtina |
| Zdroj: | Cureus [Cureus] 2021 Apr 28; Vol. 13 (4), pp. e14727. Date of Electronic Publication: 2021 Apr 28. |
| DOI: | 10.7759/cureus.14727 |
| Abstrakt: | Multiple congenital anomalies-hypotonia-seizures syndrome 3 (MCAHS3) is a rare genetic disorder, characterized by infantile-onset epilepsy, hypotonia, global developmental delay, dysmorphic features, and variable congenital anomalies involving the cardiac, skeletal, and genitourinary systems. It is caused by the homozygous or compound heterozygous mutation in the phosphatidylinositol glycan class T (PIGT) gene. Only fewer cases were reported in the literature till now. We described a PIGT mutation in an Indian girl with global developmental delay, infantile-onset seizures, hypotonia, and facial dysmorphism. This case will help to expand the clinical spectrum of PIGT mutation. Competing Interests: The authors have declared that no competing interests exist. (Copyright © 2021, Sai Chandar et al.) |
| Databáze: | MEDLINE |
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