Phenotypic Spectrum in Three Romanian Patients with 8q23-q24 Deletions

Area of Science:

• Genetics
• Rare Diseases
• Human Physiology

Background:

• Trichorhinophalangeal syndrome type II (TRPS II) is a rare contiguous gene deletion disorder in the 8q23.3-q24.11 region.
• Key genes implicated include TRPS1, RAD21, and EXT1, contributing to facial dysmorphism, ectodermal and skeletal anomalies, osteochondromas, and cognitive impairment.

Purpose of the Study:

• To present clinical and genetic findings from three unrelated patients with 8q23-q24 deletions.
• To review diagnostic testing strategies for patients and families affected by these deletions.
• To expand the understanding of the genetic and clinical landscape of TRPS II and 8q23-q24 deletions.

Main Methods:

• Microarray analysis to identify deletions.
• MLPA (Multiplex Ligation-dependent Probe Amplification) evaluation for two patients.
• Clinical and genetic data review and correlation.

Main Results:

• Three new patients with heterogeneous 8q23-q24 deletions were identified.
• Deletion sizes, genomic coordinates, and gene content varied significantly among patients.
• One deletion excluded TRPS1, and another excluded both TRPS1 and RAD21, showing overlapping phenotypes with TRPS II.

Conclusions:

• The findings contribute to a broader understanding of genotype-phenotype correlations in TRPS II and 8q23-q24 deletions.
• Further research can refine diagnostic approaches and therapeutic strategies for affected individuals.
• Detailed characterization of these deletions aids in identifying specific gene-phenotype associations.