Case Report: Potocki-Lupski Syndrome in Five Siblings

Area of Science:

• Genetics
• Developmental Biology
• Clinical Medicine

Background:

• Potocki-Lupski syndrome (PTLS) is a rare genetic disorder characterized by partial duplication of the short arm of chromosome 17 (17p11.2 microduplication).
• PTLS can manifest with hypotonia, facial dysmorphism, neurological abnormalities, and failure to thrive, often linked to swallowing difficulties or growth hormone deficiency.

Observation:

• This study reports the first diagnosed Romanian family with PTLS, comprising a mother and her five children, who exhibit a less severe clinical presentation.
• Neurological manifestations included speech delay and mild intellectual disability, alongside craniofacial dysmorphism such as microcephaly, micrognathia, and a triangular face.
• Diagnostic confirmation was achieved using the multiplex ligation-dependent probe amplification (MLPA) technique, identifying the duplication of critical regions on chromosome 17p11.2.

Findings:

• The MLPA test confirmed the 17p11.2 microduplication, specifically involving the RAI1, DRC3-6, and LLGL1-4RA regions.
• The affected family members presented a milder phenotype compared to typical PTLS cases, underscoring the variability of the condition.
• Specific phenotypic features observed included microcephaly, micrognathia, triangular face, broad forehead, long chin, prominent ears, dolichocephaly, and down-slanting palpebral fissures.

Implications:

• Pediatricians should consider PTLS in children presenting with specific phenotypes like craniofacial dysmorphism or neurological issues.
• The unique clinical presentation in each child necessitates a tailored, multi-disciplinary approach for effective patient management.
• Genetic counseling and support are crucial for families affected by PTLS, aiding in understanding the condition and its inheritance patterns.