Phenotypic description of a large French series of individuals with Potocki-Lupski syndrome
Abstract
Potocki-Lupski syndrome (PTLS) is a rare genetic disorder, with an estimated prevalence of 1:25 000. Detection of a duplication at position 17p11.2 comprising the RAI1 gene establishes the diagnosis. Deletion of this same region is responsible for Smith-Magenis syndrome (SMS). Hitherto, the non-specific clinical features included psychomotor and growth retardation and multiple congenital anomalies. Our aim was to further delineate the clinical spectrum of PLTS. Methods: We gathered a series of 56 individuals carrying a 17p11.2 duplication, one of the largest reported to date. We collected detailed phenotypic data and established a phenotypic comparison with individuals already described in the literature. Results: We corroborated the main clinical signs associated with PTLS and highlighted additional features present in a significant proportion in our series, such as intrauterine growth retardation or low birth weight, musculoskeletal and ophthalmological anomalies, and abnormalities of the skin appendages. In line with previous reports, behavioural disorders were frequently identified (23%). Yet unexpectedly, self-aggressive and hetero-aggressive behaviours, characteristic features of SMS, were found in a small number of individuals. Forty-six individuals harboured the recurrent duplication (85%), five had larger duplications (9%) and three had smaller duplications (6%). We did not identify inherited duplications when parental information was available (n=43). Conclusion: Our study refined the clinical features of PTLS and their relative frequencies. Our findings therefore contribute to improving management of people with PTLS. These open up new pathophysiological hypotheses involving RAI1 gene dosage of the genesis and control of behaviour, as well as new, more complex regulatory pathways.
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BibTeX
@article{coudert2026phenotypic,
title = {{Phenotypic description of a large French series of individuals with Potocki-Lupski syndrome}},
author = {Alicia Coudert and Pauline Le Tanno and Patrick Edery and William Dufour and Chantal Missirian and Roseline Caumes and Laurence Faivre and Patrick Callier and Anne-Laure Mosca-Boidron and Nathalie Marle and David Geneviève and Didier Lacombe and Céline Pebrel-Richard and Sylvia Redon and Renaud Touraine and Aurélia Jacquette and Melanie Fradin and Sylvie Odent and Laurent Pasquier and Agnés Guichet and Sandra Mercier and Mathilde Nizon and Bertrand Isidor and Marie Vincent and Xavier Le Guillou-Horn and Matthieu Egloff and Geoffroy Delplancq and Elise Schaefer and Anne Marie Guerrot and Pascale Chambon and Lyse Ruaud and Nicole Chemaly and Gwenaël Nadeau and Charles Coutton and Klaus Dieterich},
journal = {Journal of Medical Genetics},
year = {2026},
month = oct,
doi = {10.1136/jmg-2025-111028},
url = {https://hal.science/hal-05537748v1},
note = {CC BY-NC 4.0},
}
RIS
TY - JOUR
TI - Phenotypic description of a large French series of individuals with Potocki-Lupski syndrome
AU - Alicia Coudert
AU - Pauline Le Tanno
AU - Patrick Edery
AU - William Dufour
AU - Chantal Missirian
AU - Roseline Caumes
AU - Laurence Faivre
AU - Patrick Callier
AU - Anne-Laure Mosca-Boidron
AU - Nathalie Marle
AU - David Geneviève
AU - Didier Lacombe
AU - Céline Pebrel-Richard
AU - Sylvia Redon
AU - Renaud Touraine
AU - Aurélia Jacquette
AU - Melanie Fradin
AU - Sylvie Odent
AU - Laurent Pasquier
AU - Agnés Guichet
AU - Sandra Mercier
AU - Mathilde Nizon
AU - Bertrand Isidor
AU - Marie Vincent
AU - Xavier Le Guillou-Horn
AU - Matthieu Egloff
AU - Geoffroy Delplancq
AU - Elise Schaefer
AU - Anne Marie Guerrot
AU - Pascale Chambon
AU - Lyse Ruaud
AU - Nicole Chemaly
AU - Gwenaël Nadeau
AU - Charles Coutton
AU - Klaus Dieterich
PY - 2026
DA - 2026/10/22
JO - Journal of Medical Genetics
DO - 10.1136/jmg-2025-111028
UR - https://hal.science/hal-05537748v1
AB - Potocki-Lupski syndrome (PTLS) is a rare genetic disorder, with an estimated prevalence of 1:25 000. Detection of a duplication at position 17p11.2 comprising the RAI1 gene establishes the diagnosis. Deletion of this same region is responsible for Smith-Magenis syndrome (SMS). Hitherto, the non-specific clinical features included psychomotor and growth retardation and multiple congenital anomalies. Our aim was to further delineate the clinical spectrum of PLTS. Methods: We gathered a series of 56 individuals carrying a 17p11.2 duplication, one of the largest reported to date. We collected detailed phenotypic data and established a phenotypic comparison with individuals already described in the literature. Results: We corroborated the main clinical signs associated with PTLS and highlighted additional features present in a significant proportion in our series, such as intrauterine growth retardation or low birth weight, musculoskeletal and ophthalmological anomalies, and abnormalities of the skin appendages. In line with previous reports, behavioural disorders were frequently identified (23%). Yet unexpectedly, self-aggressive and hetero-aggressive behaviours, characteristic features of SMS, were found in a small number of individuals. Forty-six individuals harboured the recurrent duplication (85%), five had larger duplications (9%) and three had smaller duplications (6%). We did not identify inherited duplications when parental information was available (n=43). Conclusion: Our study refined the clinical features of PTLS and their relative frequencies. Our findings therefore contribute to improving management of people with PTLS. These open up new pathophysiological hypotheses involving RAI1 gene dosage of the genesis and control of behaviour, as well as new, more complex regulatory pathways.
SN - 0022-2593
SN - 1468-6244
ER -