De novo MECP2 disomy in a Mexican male carrying a supernumerary marker chromosome and no typical Lubs syndrome features.

Abstract

Xq28 duplication, including the MECP2 gene, is among the most frequently identified Xq subtelomeric rearrangements. The resulting clinical phenotype is named Lubs syndrome and mainly consists of intellectual disability, congenital hypotonia, absent speech, recurrent infections, and seizures. Here we report a Mexican male patient carrying a supernumerary marker chromosome with de novo Xq28 gain. By MLPA, duplication of MECP2, GDI1, and SLC6A8 was found and a subsequent a-CGH analysis demonstrated that the gain spanned ~2.1Mb. Despite gain of the MECP2 gene, the features of this patient do not evoke Lubs syndrome. Probably the mosaicism of the supernumerary marker chromosome is modifying the phenotype in this patient.

• Authors: Vivian Alejandra Neira, Pavel Romero-Espinoza, Augusto Rojas-Martínez, Rocío Ortiz-López, Carlos Córdova-Fletes, Alberto Plaja, Patricio Barros-Núñez
• Journal: Gene (Gene) Vol. 524 Issue 2 Pg. 381-5 (Jul 25 2013) ISSN: 1879-0038 [Electronic] Netherlands
• PMID: 23639959 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
• Copyright: Copyright © 2013 Elsevier B.V. All rights reserved.

Chemical References

• FMR1 protein, human
• Genetic Markers
• MECP2 protein, human
• Methyl-CpG-Binding Protein 2
• Nerve Tissue Proteins
• Plasma Membrane Neurotransmitter Transport Proteins
• SLC6A8 protein, human
• Fragile X Mental Retardation Protein

Topics

• Adolescent
• Androgen-Insensitivity Syndrome (genetics, pathology)
• Chromosome Duplication (genetics)
• Craniofacial Abnormalities (genetics)
• Facies
• Fragile X Mental Retardation Protein (genetics)
• Genetic Diseases, X-Linked (genetics)
• Genetic Markers
• Genetic Variation
• Humans
• Infant
• Intellectual Disability (genetics)
• Male
• Methyl-CpG-Binding Protein 2 (genetics)
• Mexico
• Multiplex Polymerase Chain Reaction
• Nerve Tissue Proteins (genetics)
• Phenotype
• Plasma Membrane Neurotransmitter Transport Proteins (genetics)
• Sex Chromosome Disorders (genetics)