How to Cite this Article: Vu PY, Toutain J, Cappellen D, Delrue M-A, Daoud H, Moneim AAE, Barat P, Montaubin O, Bonnet F, Dai ZQ, Philippe C, Tran CT, Rooryck C, Arveiler B, Saura R, Briault S, Lacombe D, Taine L. 2012. A homozygous balanced reciprocal translocation suggests LINC00237 as a candidate gene for MOMO (macrosomia, obesity, macrocephaly and ocular abnormalities) syndrome. Am J Med Genet Part A 158A: 2849–2856.
Article first published online: 3 OCT 2012
Copyright © 2012 Wiley Periodicals, Inc.
American Journal of Medical Genetics Part A
Special Issue: SPECIAL ISSUE: GROWTH CHARTS IN GENETIC SYNDROMES
Volume 158A, Issue 11, pages 2849–2856, November 2012
How to Cite
Vu, P. Y., Toutain, J., Cappellen, D., Delrue, M.-A., Daoud, H., Moneim, A. A. E., Barat, P., Montaubin, O., Bonnet, F., Dai, Z. Q., Philippe, C., Tran, C. T., Rooryck, C., Arveiler, B., Saura, R., Briault, S., Lacombe, D. and Taine, L. (2012), A homozygous balanced reciprocal translocation suggests LINC00237 as a candidate gene for MOMO (macrosomia, obesity, macrocephaly, and ocular abnormalities) syndrome. Am. J. Med. Genet., 158A: 2849–2856. doi: 10.1002/ajmg.a.35694
The authors declare no conflict of interest.
Jérôme Toutain and David Cappellen contributed equally to this work.
- Issue published online: 17 OCT 2012
- Article first published online: 3 OCT 2012
- Manuscript Accepted: 29 AUG 2012
- Manuscript Received: 7 APR 2012
- CHU-Bordeaux AOI 2003–2005 Promotion
- MOMO syndrome;
- intellectual disability;
- non-coding RNA
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. © 2012 Wiley Periodicals, Inc.