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

Costela Lacrimioara Serban^1,2ALEXANDRA MIHAILESCU³Diana Miclea^4,5Cristian ZIMBRU⁶Florina Stoica⁷Adela Chirita-Emandi^2,3*

• ¹Department of Functional Sciences, Discipline of Public Health, Center for Translational Research and Systems Medicine, Victor Babes University of Medicine and Pharmacy, Timisoara, Romania
• ²Regional Center of Medical Genetics Timis, part of ERN ITHACA, Clinical Emergency Hospital for Children 'Louis Turcanu', Timisoara, Romania
• ³Department of Microscopic Morphology Genetics Discipline, Center of Genomic Medicine, Victor Babes University of Medicine and Pharmacy, Timisoara, Romania
• ⁴Children's Emergency Clinical Hospital Cluj-Napoca, Cluj-Napoca, Romania
• ⁵Department of Molecular Sciences, University of Medicine and Pharmacy Iuliu Hatieganu, Cluj-Napoca, Romania
• ⁶Department of Automation and Applied Informatics, Politehnica University of Timișoara, Timișoara, Romania
• ⁷Center of expertise for rare ocular disease, part of ERN-EYE, Timişoara Municipal Emergency Clinical Hospital, Timisoara, Romania

This case report and literature review documents an ultra-rare de novo copy number gain at 5q14.3q15. Patient's phenotype included hypotonia, microcephaly, global developmental delay, iris hypoplasia and atrophy, sweat dysregulation and skeletal implications, 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.