Rare multiple congenital anomalies-hypotonia-seizures syndrome type 1 (MCAHS1) - the clinical and molecular summary.

Autor: Bukowska-Olech E; Poznan University of Medical Sciences, Department of Medical Genetics, Poznan, Poland. Electronic address: ewe.olech@gmail.com., Glista F; Poznan University of Medical Sciences, Department of Medical Genetics, Poznan, Poland., Dinwiddie A; CeGaT GmbH, and Praxis für Humangenetik, Tübingen, Germany., Pepler A; CeGaT GmbH, and Praxis für Humangenetik, Tübingen, Germany., Jamsheer A; Poznan University of Medical Sciences, Department of Medical Genetics, Poznan, Poland; Centers for Medical Genetics GENESIS, Poznan, Poland. Electronic address: jamsheer@wp.pl.
Jazyk: angličtina
Zdroj: European journal of medical genetics [Eur J Med Genet] 2023 Jan; Vol. 66 (1), pp. 104668. Date of Electronic Publication: 2022 Nov 13.
DOI: 10.1016/j.ejmg.2022.104668
Abstrakt: Multiple congenital anomalies-hypotonia-seizures syndrome type 1 (MCAHS1) is a rare autosomal recessive genetic disease belonging to glycosylphosphatidylinositols biosynthesis defects (GPIBD), a group of recessive disorders characterized by intellectual disability, hypotonia, and seizures. Glycosylphosphatidylinositols (GPIs) are glycolipids that anchor and remodel cell proteins. These processes are highly conserved and fundamental in the metabolism of all eukaryotes, including humans. Here, we have reported a male patient presenting with hypotonia, intellectual disability, and epilepsy, who underwent whole exome sequencing (WES). The analysis revealed the presence of two deleterious variants in PIGN that encodes GPI ethanolamine phosphate transferase-1 - one novel (c.1247_1251delAAGTG; p.Glu416Glyfs*22), and one that has been previously reported in the medical literature (c.1434+5G>A) resulting in MCAHS1. The detailed clinical assessment followed by the medical literature review also pointed out transient macrosomia and unreported in MCAHS1 advanced bone age and postnatal tall stature. These symptoms suggest that MCAHS1 shares a phenotypic overlap with disorders associated with overgrowth. To conclude, our case report and summary of the medical literature may be helpful for clinicians and geneticists who diagnose patients presenting with hypotonia accompanied by tall stature, advanced bone age, and transient macrosomia.
Competing Interests: Declaration of competing interest The authors declare that they have no conflict of interest.
(Copyright © 2022 Elsevier Masson SAS. All rights reserved.)
Databáze: MEDLINE
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