Journal article
Analysis of MLL2 gene in the first Brazilian family with Kabuki syndrome
American journal of medical genetics. Part A, Vol.158A(8), pp.2003-2008
08/2012
DOI: 10.1002/ajmg.a.35454
PMCID: PMC3724514
PMID: 22740433
Abstract
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.
Details
- Title: Subtitle
- Analysis of MLL2 gene in the first Brazilian family with Kabuki syndrome
- Creators
- Nancy Mizue Kokitsu-Nakata - Department of Clinical Genetics, Hospital of Rehabilitation of Craniofacial Anomalies, University of São Paulo (HRCA-USP), Bauru, São Paulo, Brazil. nancykn@centrinho.usp.brAline Lourenço PetrinJason Paul HeardSiulan Vendramini-PittoliLaura E HenkleDaniela Vera Cruz dos SantosJeffrey Clark MurrayAntonio Richieri-Costa
- Resource Type
- Journal article
- Publication Details
- American journal of medical genetics. Part A, Vol.158A(8), pp.2003-2008
- DOI
- 10.1002/ajmg.a.35454
- PMID
- 22740433
- PMCID
- PMC3724514
- NLM abbreviation
- Am J Med Genet A
- ISSN
- 1552-4825
- eISSN
- 1552-4833
- Publisher
- United States
- Grant note
- R37 DE008559 / NIDCR NIH HHS R01 DE008559 / NIDCR NIH HHS DE08559 / NIDCR NIH HHS
- Language
- English
- Date published
- 08/2012
- Academic Unit
- Orthodontics; Anatomy and Cell Biology; Stead Family Department of Pediatrics; Epidemiology; Pediatric Dentistry; Craniofacial Anomalies Research Center; Dental Research
- Record Identifier
- 9984025349402771
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