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
This case report and literature review documents an ultra-rare <i>de novo</i> 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 <i>MEF2C</i> gene (#MIM 600662). Through comprehensive clinical and genetic evaluation, we aim to enhance the understanding of this ultra-rare genetic condition and its implications.
Authors
- Costela Lăcrimioara Șerban (ORCID: https://orcid.org/0000-0003-4648-025X)
- Diana Miclea (ORCID: https://orcid.org/0000-0001-8777-0689)
- Alexandra Mihăilescu (ORCID: https://orcid.org/0000-0001-9875-529X)
- Florina Stoica (ORCID: https://orcid.org/0000-0003-4893-856X)
- Cristian G. Zimbru (ORCID: https://orcid.org/0000-0002-2652-0931)
- Adela Chiriţă-Emandi (ORCID: https://orcid.org/0000-0001-7554-4625)
Institutions
- Iuliu Hațieganu University of Medicine and Pharmacy (RO)
- Clinical Emergency Hospital Bucharest (RO)
- Polytechnic University of Timişoara (RO)
- Spitalul Clinic Judeţean de Urgenţă "Pius Brînzeu" Timişoara (RO)
- Victor Babeș University of Medicine and Pharmacy Timișoara (RO)
- Camera de Comerț Industrie și Agricultură Timișoara (RO)
Publication Details
- Journal
- Frontiers in Genetics
- Published
- 2025-05-26
- DOI
- https://doi.org/10.3389/fgene.2025.1549685
- Primary Topic
- Genomic variations and chromosomal abnormalities
- Type
- article
- Field-Weighted Citation Impact
- 0.00