Phenotypic description of a large French series of individuals with Potocki-Lupski syndrome.

17p11.2 duplication including RAI1 (triplosenssitive) → refined clinical spectrum in a large French series including unexpected behavioral manifestations

A French series of 56 individuals with 17p11.2 duplication refines the clinical spectrum of Potocki-Lupski syndrome (PTLS). Beyond the cardinal signs (psychomotor delay, multiple congenital anomalies), additional features are highlighted: intrauterine growth retardation, musculoskeletal and ophthalmological anomalies, skin appendage anomalies. Unexpectedly, self-aggressive and hetero-aggressive behaviors — characteristic of Smith-Magenis syndrome (17p11.2 deletion) — were observed in a small number of cases, raising hypotheses about RAI1 dosage effects.

Synthesis written by Geno'X. For the full original abstract, please refer to the source publication.

The main interest of this study is showing that SMS-associated behaviors can also occur in PTLS, highlighting that RAI1 dosage — whether in excess or deficit — disrupts the same behavioral circuits. These data enrich family counseling and argue for proactive neuropsychiatric management in PTLS patients.

Clinical impact: 2/3 · Evidence strength: 2/3 · Novelty: 1/2 · Sample size: 1/1 · Journal quality: 1/1 → Total: 7/10