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

Phi Yen Vu, Jérôme Toutain, David Cappellen, Marie-Ange Delrue, Hussein Daoud, Azza Abd El Moneim, Pascal Barat, Orianne Montaubin, Françoise Bonnet, Zong Qi Dai, Christophe Philippe, Cong Toai Tran, Caroline Rooryck, Benoît Arveiler, Robert Saura, Sylvain Briault, Didier Lacombe, Laurence Taine
Am. J. Med. Genet.. 2012-10-03; 158A(11): 2849-2856
DOI: 10.1002/ajmg.a.35694

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1. Am J Med Genet A. 2012 Nov;158A(11):2849-56. doi: 10.1002/ajmg.a.35694. Epub 2012
Oct 3.

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

Vu PY(1), Toutain J, Cappellen D, Delrue MA, Daoud H, El Moneim AA, Barat P,
Montaubin O, Bonnet F, Dai ZQ, Philippe C, Tran CT, Rooryck C, Arveiler B, Saura
R, Briault S, Lacombe D, Taine L.

Author information:
(1)Univ. Bordeaux, Maladies Rares: Génétique et Métabolisme, Bordeaux, France.

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.

Copyright © 2012 Wiley Periodicals, Inc.

DOI: 10.1002/ajmg.a.35694
PMID: 23034868 [Indexed for MEDLINE]

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