Frontiers in Neurology | |
Case report: Novel compound heterozygosity for pathogenic variants in MED23 in a syndromic patient with postnatal microcephaly | |
Neurology | |
Francesca Clementina Radio1  Marcello Niceta1  Simone Pizzi1  Marco Tartaglia1  Sabina Barresi1  Cecilia Mancini1  Francesca Mercadante2  Martina Busè2  Arturo Ferrara2  Emanuela Salzano2  Maria Piccione3  | |
[1] Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy;Medical Genetics Unit, AOOR Villa Sofia-Cervello Hospitals, Palermo, Italy;Medical Genetics Unit, AOOR Villa Sofia-Cervello Hospitals, Palermo, Italy;Department of Health Promotion, Mother and Child Care, Internal Medicine and Medical Specialties, University of Palermo, Palermo, Italy; | |
关键词: MED23; post-natal microcephaly; epilepsy; whole exome sequencing; case report; | |
DOI : 10.3389/fneur.2023.1090082 | |
received in 2022-11-04, accepted in 2023-01-11, 发布年份 2023 | |
来源: Frontiers | |
【 摘 要 】
Biallelic loss-of-function variants in MED23 cause a recessive syndromic intellectual disability condition with or without epilepsy (MRT18). Due to the small number of reported individuals, the clinical phenotype of the disorder has not been fully delineated yet, and the spectrum and frequency of neurologic features have not been fully characterized. Here, we report a 5-year-old girl with compound heterozygous for two additional MED23 variants. Besides global developmental delay, axial hypotonia and peripheral increased muscular tone, absent speech, and generalized tonic seizures, which fit well MRT18, the occurrence of postnatal progressive microcephaly has been here documented. A retrospective assessment of the previously reported clinical data for these subjects confirms the occurrence of postnatal progressive microcephaly as a previously unappreciated feature of the phenotype of MED23-related disorder.
【 授权许可】
Unknown
Copyright © 2023 Salzano, Niceta, Pizzi, Radio, Busè, Mercadante, Barresi, Ferrara, Mancini, Tartaglia and Piccione.
【 预 览 】
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RO202310109312207ZK.pdf | 679KB | download |