A homozygous balanced reciprocal translocation suggests LINC00237 as a candidate gene for MOMO (macrosomia, obesity, macrocephaly, and ocular abnormalities) syndrome

Autor: Marie-Ange Delrue, Sylvain Briault, Orianne Montaubin, Laurence Taine, David Cappellen, Caroline Rooryck, Hussein Daoud, Françoise Bonnet, Benoit Arveiler, Azza Abd El Moneim, Didier Lacombe, Cong Toai Tran, Phi Yen Vu, Jérôme Toutain, Robert Saura, Christophe Philippe, Pascal Barat, Zong Qi Dai
Přispěvatelé: CHU Bordeaux [Bordeaux], Université Sciences et Technologies - Bordeaux 1, Biologie des Tumeurs, Institut Curie [Paris], Université Francois Rabelais [Tours], Nutrition et Neurobiologie intégrée (NutriNeuro), Université Bordeaux Segalen - Bordeaux 2-Institut National de la Recherche Agronomique (INRA)-Université Sciences et Technologies - Bordeaux 1-Institut Polytechnique de Bordeaux-Ecole nationale supérieure de chimie, biologie et physique, Institut Bergonié [Bordeaux], UNICANCER, Centre Hospitalier Régional Universitaire de Nancy (CHRU Nancy), Vietnam National University - Ho Chi Minh City (VNU-HCM)
Jazyk: angličtina
Rok vydání: 2012
Předmět:
MOMO syndrome
Male
syndrome MOMO
Candidate gene
[SDV]Life Sciences [q-bio]
non-coding RNA
gène codant
Chromosomal translocation
maladie héréditaire
hyperphagia
obesity
intellectual disability
Translocation
Genetic
Fetal Macrosomia
Chromosome Breakpoints
anomalie chromosomique
maladie génétique
Child
Genetics (clinical)
In Situ Hybridization
Fluorescence
Genetics
0303 health sciences
capacité mentale
030305 genetics & heredity
Homozygote
Karyotype
Uniparental disomy
3. Good health
Coloboma
obésité
Phenotype
extraction d'adn
RNA
Long Noncoding
medicine.symptom
Positional cloning
Molecular Sequence Data
Biology
03 medical and health sciences
Open Reading Frames
pcr
Intellectual Disability
medicine
Humans
Abnormalities
Multiple
Genetic Predisposition to Disease
Amino Acid Sequence
Obesity
030304 developmental biology
Base Sequence
Gene Expression Profiling
Macrocephaly
medicine.disease
Molecular Abnormality
Megalencephaly
Mutation
Head
Zdroj: American Journal of Medical Genetics Part A 11 (158A), 2849-2856. (2012)
American Journal of Medical Genetics Part A
American Journal of Medical Genetics Part A, Wiley, 2012, 158A (11), pp.2849-2856. ⟨10.1002/ajmg.a.35694⟩
ISSN: 1552-4825
1552-4833
DOI: 10.1002/ajmg.a.35694⟩
Popis: International audience; Macrosomia, obesity, macrocephaly, and ocular abnormalities syndrome (MOMO syndrome) has been reported in only four patients to date. In these sporadic cases, no chromosomal or molecular abnormality has been identified thus far. Here, we report on the clinical, cytogenetic, and molecular findings in a child of healthy consanguineous parents suffering from MOMO syndrome. Conventional karyotyping revealed an inherited homozygous balanced reciprocal translocation (16;20)(q21;p11.2). Uniparental disomy testing showed bi-parental inheritance for both derivative chromosomes 16 and 20. The patient's oligonucleotide array-comparative genomic hybridization profile revealed no abnormality. From the homozygous balanced reciprocal translocation (16;20)(q21;p11.2), a positional cloning strategy, designed to narrow 16q21 and 20p11.2 breakpoints, revealed the disruption of a novel gene located at 20p11.23. This gene is now named LINC00237, according to the HUGO (Human Genome Organization) nomenclature. The gene apparently leads to the production of a non-coding RNA. We established that LINC00237 was expressed in lymphocytes of control individuals while normal transcripts were absent in lymphocytes of our MOMO patient. LINC00237 was not ubiquitously expressed in control tissues, but it was notably highly expressed in the brain. Our results suggested autosomal recessive inheritance of MOMO syndrome. LINC00237 could play a role in the pathogenesis of this syndrome and could provide new insights into hyperphagia-related obesity and intellectual disability.
Databáze: OpenAIRE
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