title: 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: División de Genética, Centro de Investigación Biomédica de Occidente, CMNO-IMSS, Guadalajara, Jalisco, Mexico.
authors: Vivian Alejandra
authors: VA
authors: Neira
authors: Pavel
authors: P
authors: Romero-Espinoza
authors: Augusto
authors: A
authors: Rojas-Martínez
authors: Rocío
authors: R
authors: Ortiz-López
authors: Carlos
authors: C
authors: Córdova-Fletes
authors: Alberto
authors: A
authors: Plaja
authors: Patricio
authors: P
authors: Barros-Núñez
mesh_terms: D000293:Adolescent; D013734:Androgen-Insensitivity Syndrome / Q000235:genetics* / Q000473:pathology; D058674:Chromosome Duplication / Q000235:genetics*; D019465:Craniofacial Abnormalities / Q000235:genetics*; D019066:Facies; D051860:Fragile X Messenger Ribonucleoprotein 1 / Q000235:genetics; D040181:Genetic Diseases, X-Linked / Q000235:genetics*; D005819:Genetic Markers; D014644:Genetic Variation; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D051783:Methyl-CpG-Binding Protein 2 / Q000235:genetics*; D008800:Mexico; D060885:Multiplex Polymerase Chain Reaction; D009419:Nerve Tissue Proteins / Q000235:genetics; D010641:Phenotype; D050480:Plasma Membrane Neurotransmitter Transport Proteins / Q000235:genetics; D025064:Sex Chromosome Disorders / Q000235:genetics*
chemical_list: D051860:Fragile X Messenger Ribonucleoprotein 1; D005819:Genetic Markers; D051783:Methyl-CpG-Binding Protein 2; D009419:Nerve Tissue Proteins; D050480:Plasma Membrane Neurotransmitter Transport Proteins; C497683:FMR1 protein, human; C497392:MECP2 protein, human; C094770:SLC6A8 protein, human