3q27.3 microdeletional syndrome: A recognisable clinical entity associating dysmorphic features, marfanoid habitus, intellectual disability and psychosis with mood disorder

Julien Thevenon, Patrick Callier, Hélène Poquet, Iben Bache, Bjorn Menten, Valérie Malan, Maria Luigia Cavaliere, Jean Paul Girod, Christel Thauvin-Robinet, Salima El Chehadeh, Jean Michel Pinoit, Frederic Huet, Bruno Verges, Jean Michel Petit, Anne Laure Mosca-Boidron, Nathalie Marle, Francine Mugneret, Alice Masurel-Paulet, Antonio Novelli, Zeynep TümerBart Loeys, Stanislas Lyonnet, Laurence Faivre

Research output: Contribution to journalArticle

6 Citations (Scopus)

Abstract

Background Since the advent of array-CGH, numerous new microdeletional syndromes have been delineated while others remain to be described. Although 3q29 subtelomeric deletion is a well-described syndrome, there is no report on 3q interstitial deletions. Methods We report for the first time seven patients with interstitial deletions at the 3q27.3q28 locus gathered through the Decipher database, and suggest this locus as a new microdeletional syndrome. Results The patients shared a recognisable facial dysmorphism and marfanoid habitus, associated with psychosis and mild to severe intellectual disability (ID). Most of the patients had no delay in gross psychomotor acquisition, but had severe impaired communicative and adaptive skills. Two small regions of overlap were defined. The first one, located on the 3q27.3 locus and common to all patients, was associated with psychotic troubles and mood disorders as well as recognisable facial dysmorphism. This region comprised several candidate genes including SST, considered a candidate for the neuropsychiatric findings because of its implication in interneuronal migration and differentiation processes. A familial case with a smaller deletion allowed us to define a second region of overlap at the 3q27.3q28 locus for marfanoid habitus and severe ID. Indeed, the common morphological findings in the first four patients included skeletal features from the marfanoid spectrum: scoliosis (4/4), long and thin habitus with leanness (average Body Mass Index of 15 (18.5

Original languageEnglish
Pages (from-to)21-27
Number of pages7
JournalJournal of Medical Genetics
Volume51
Issue number1
DOIs
Publication statusPublished - 2014

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Mood Disorders
Intellectual Disability
Psychotic Disorders
Psychotic Affective Disorders
Thinness
Scoliosis
Body Mass Index
Databases
Genes

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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3q27.3 microdeletional syndrome : A recognisable clinical entity associating dysmorphic features, marfanoid habitus, intellectual disability and psychosis with mood disorder. / Thevenon, Julien; Callier, Patrick; Poquet, Hélène; Bache, Iben; Menten, Bjorn; Malan, Valérie; Cavaliere, Maria Luigia; Girod, Jean Paul; Thauvin-Robinet, Christel; Chehadeh, Salima El; Pinoit, Jean Michel; Huet, Frederic; Verges, Bruno; Petit, Jean Michel; Mosca-Boidron, Anne Laure; Marle, Nathalie; Mugneret, Francine; Masurel-Paulet, Alice; Novelli, Antonio; Tümer, Zeynep; Loeys, Bart; Lyonnet, Stanislas; Faivre, Laurence.

In: Journal of Medical Genetics, Vol. 51, No. 1, 2014, p. 21-27.

Research output: Contribution to journalArticle

Thevenon, J, Callier, P, Poquet, H, Bache, I, Menten, B, Malan, V, Cavaliere, ML, Girod, JP, Thauvin-Robinet, C, Chehadeh, SE, Pinoit, JM, Huet, F, Verges, B, Petit, JM, Mosca-Boidron, AL, Marle, N, Mugneret, F, Masurel-Paulet, A, Novelli, A, Tümer, Z, Loeys, B, Lyonnet, S & Faivre, L 2014, '3q27.3 microdeletional syndrome: A recognisable clinical entity associating dysmorphic features, marfanoid habitus, intellectual disability and psychosis with mood disorder', Journal of Medical Genetics, vol. 51, no. 1, pp. 21-27. https://doi.org/10.1136/jmedgenet-2013-101939
Thevenon, Julien ; Callier, Patrick ; Poquet, Hélène ; Bache, Iben ; Menten, Bjorn ; Malan, Valérie ; Cavaliere, Maria Luigia ; Girod, Jean Paul ; Thauvin-Robinet, Christel ; Chehadeh, Salima El ; Pinoit, Jean Michel ; Huet, Frederic ; Verges, Bruno ; Petit, Jean Michel ; Mosca-Boidron, Anne Laure ; Marle, Nathalie ; Mugneret, Francine ; Masurel-Paulet, Alice ; Novelli, Antonio ; Tümer, Zeynep ; Loeys, Bart ; Lyonnet, Stanislas ; Faivre, Laurence. / 3q27.3 microdeletional syndrome : A recognisable clinical entity associating dysmorphic features, marfanoid habitus, intellectual disability and psychosis with mood disorder. In: Journal of Medical Genetics. 2014 ; Vol. 51, No. 1. pp. 21-27.
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T1 - 3q27.3 microdeletional syndrome

T2 - A recognisable clinical entity associating dysmorphic features, marfanoid habitus, intellectual disability and psychosis with mood disorder

AU - Thevenon, Julien

AU - Callier, Patrick

AU - Poquet, Hélène

AU - Bache, Iben

AU - Menten, Bjorn

AU - Malan, Valérie

AU - Cavaliere, Maria Luigia

AU - Girod, Jean Paul

AU - Thauvin-Robinet, Christel

AU - Chehadeh, Salima El

AU - Pinoit, Jean Michel

AU - Huet, Frederic

AU - Verges, Bruno

AU - Petit, Jean Michel

AU - Mosca-Boidron, Anne Laure

AU - Marle, Nathalie

AU - Mugneret, Francine

AU - Masurel-Paulet, Alice

AU - Novelli, Antonio

AU - Tümer, Zeynep

AU - Loeys, Bart

AU - Lyonnet, Stanislas

AU - Faivre, Laurence

PY - 2014

Y1 - 2014

N2 - Background Since the advent of array-CGH, numerous new microdeletional syndromes have been delineated while others remain to be described. Although 3q29 subtelomeric deletion is a well-described syndrome, there is no report on 3q interstitial deletions. Methods We report for the first time seven patients with interstitial deletions at the 3q27.3q28 locus gathered through the Decipher database, and suggest this locus as a new microdeletional syndrome. Results The patients shared a recognisable facial dysmorphism and marfanoid habitus, associated with psychosis and mild to severe intellectual disability (ID). Most of the patients had no delay in gross psychomotor acquisition, but had severe impaired communicative and adaptive skills. Two small regions of overlap were defined. The first one, located on the 3q27.3 locus and common to all patients, was associated with psychotic troubles and mood disorders as well as recognisable facial dysmorphism. This region comprised several candidate genes including SST, considered a candidate for the neuropsychiatric findings because of its implication in interneuronal migration and differentiation processes. A familial case with a smaller deletion allowed us to define a second region of overlap at the 3q27.3q28 locus for marfanoid habitus and severe ID. Indeed, the common morphological findings in the first four patients included skeletal features from the marfanoid spectrum: scoliosis (4/4), long and thin habitus with leanness (average Body Mass Index of 15 (18.5

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