A novel <i>CEP57</i> gene mutation in mosaic variegated aneuploidy syndrome 2: case report

This report describes a novel homozygous variant of <i>CEP57</i>, expanding the clinical and genetic spectrum of MVA2 syndrome. Although, karyotype should be firstly requested if MVA is suspected, whole exome sequencing is crucial. Growth hormone therapy shows limited response in this syndrome, and the association with cancer predisposition should be further studied.

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Publication Details

Journal
Journal of Pediatric Endocrinology and Metabolism
Published
2026-02-16
DOI
https://doi.org/10.1515/jpem-2025-0643
Primary Topic
Genetic Syndromes and Imprinting
Type
article
Field-Weighted Citation Impact
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article

A novel CEP57 gene mutation in mosaic variegated aneuploidy syndrome 2: case report

Edurne Novella-Maestre, Berta Diago García, Mercè Borràs, Maria Leticia Vazquez Alvarez et al.
Journal of Pediatric Endocrinology and Metabolism
Genetic Syndromes and Imprinting
article

A novel CEP57 gene mutation in mosaic variegated aneuploidy syndrome 2: case report

Edurne Novella-Maestre, Berta Diago García, Mercè Borràs, Maria Leticia Vazquez Alvarez, Cristina Pellicer Viudes, Purificación Marín Reina, Paula Guzmán Tena, Dolores Tío Guillamón, Armando Carlos Maruenda Jiménez, Victoria Cañadas Olmo, María Amparo Edo Tena, Susana Enrique Madrid
article en

Abstract

This report describes a novel homozygous variant of <i>CEP57</i>, expanding the clinical and genetic spectrum of MVA2 syndrome. Although, karyotype should be firstly requested if MVA is suspected, whole exome sequencing is crucial. Growth hormone therapy shows limited response in this syndrome, and the association with cancer predisposition should be further studied.

Journal of Pediatric Endocrinology and Metabolism
Hospital Universitari i Politècnic La Fe (ES), Hospital Universitario del Vinalopó (ES)
Gender equality
Openalex Percentile: Top 50%
Genetic Syndromes and Imprinting
DOISourceOpenAlex
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