How to Cite this Article: Kokitsu-Nakata NM, Petrin AL, Heard JP, Vendramini-Pittoli S, Henkle LE, dos Santos DVC, Murray JC, Richieri-Costa A. 2012. Analysis of MLL2 gene in the first Brazilian family with Kabuki syndrome. Am J Med Genet Part A. 158A:2003–2008.
Analysis of MLL2 gene in the first Brazilian family with Kabuki syndrome†
Article first published online: 27 JUN 2012
Copyright © 2012 Wiley Periodicals, Inc.
American Journal of Medical Genetics Part A
Volume 158A, Issue 8, pages 2003–2008, August 2012
How to Cite
Kokitsu-Nakata, N. M., Petrin, A. L., Heard, J. P., Vendramini-Pittoli, S., Henkle, L. E., dos Santos, D. V. C., Murray, J. C. and Richieri-Costa, A. (2012), Analysis of MLL2 gene in the first Brazilian family with Kabuki syndrome. Am. J. Med. Genet., 158A: 2003–2008. doi: 10.1002/ajmg.a.35454
- Issue published online: 19 JUL 2012
- Article first published online: 27 JUN 2012
- Manuscript Accepted: 8 APR 2012
- Manuscript Received: 26 SEP 2011
- NIH. Grant Number: DE08559
- Kabuki syndrome;
- dominant inheritance;
- familial recurrence;
Most patients with Kabuki syndrome (KS) are the only person in their family with the condition. However, familial cases of KS have been described showing evidence that this syndrome can be inherited as a dominant trait with variable expressivity. We report on two related individuals with facial findings characteristic of KS. The proposita had arched eyebrows, long and upward slanting palpebral fissures, cleft lip and palate, retromicrognathia, brachydactyly of hands and feet, stubby fingers, nail hypoplasia, and prominent finger pads. Her mother had eyebrows with dispersed lateral half, long and upward slanting palpebral fissures, retrognathia, abnormal and posteriorly rotated ears, prominent finger pads, brachydactyly of feet, learning difficulties, and psychomotor development delay. DNA sequencing revealed a novel missense mutation in the MLL2 gene in both the proposita and her mother. The mutation (p.R5432Q) was found in the exon 51, within the SET domain of the gene, which confers methyltransferase activity on the protein. Therefore, the epigenetic and transcriptional regulatory properties of this protein may be altered and this suggests that the mutation is the cause of phenotype observed in both the patient and her mother. The clinical signs and the molecular evidence in this family further support the notion that KS is an autosomal dominant condition with variable expressivity. To our knowledge this is the first report of a Brazilian family with recurrence of this syndrome. © 2012 Wiley Periodicals, Inc.