Case report: Novel compound heterozygosity for pathogenic variants in MED23 in a syndromic patient with postnatal microcephaly

Frontiers in Neurology

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】

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Copyright © 2023 Salzano, Niceta, Pizzi, Radio, Busè, Mercadante, Barresi, Ferrara, Mancini, Tartaglia and Piccione.