AUTHOR=Serban Costela Lacrimioara , Mihailescu Alexandra , Miclea Diana , Zimbru Cristian G. , Stoica Florina , Chirita-Emandi Adela 

TITLE=Case Report: A neurodevelopmental disorder with global developmental delay, microcephaly, eye anomalies, sweat dysregulation, and skeletal implications due to an ultra-rare de novo 5q14.3q15 copy number gain

JOURNAL=Frontiers in Genetics

VOLUME=Volume 16 - 2025

YEAR=2025

URL=https://www.frontiersin.org/journals/genetics/articles/10.3389/fgene.2025.1549685

DOI=10.3389/fgene.2025.1549685

ISSN=1664-8021

ABSTRACT=This case report and literature review documents an ultra-rare de novo copy number gain at 5q14.3q15. The patient’s phenotype included hypotonia, microcephaly, global developmental delay, iris hypoplasia, atrophy, sweat dysregulation, and skeletal implications, including camptodactyly. This case presentation provides novel insights into the genotype–phenotype correlation for 5q14.3q15 copy number gain, particularly highlighting the involvement of the MEF2C gene (#MIM 600662). Through comprehensive clinical and genetic evaluation, we aim to enhance the understanding of this ultra-rare genetic condition and its implications.