Delineation of MidXq28-duplication syndrome distal to MECP2 and proximal to RAB39B genes

Autor: Beate Albrecht, Mandy Krumbiegel, Diana Postorivo, Agatino Battaglia, Laura Bernardini, Valentina Parisi, Barbara Torres, Gioacchino Scarano, Fortunato Lonardo, Antonio Novelli, Annamaria Nardone, Valentina Guida, Paolo Fontana, Francesco Brancati, Silvia Lanciotti, Alessandra Splendiani, Malte Spielmann, Chiara Perria, Valérie Malan, Francesco Garaci, Judith Koetting, Geneviève Baujat, Jasmin Beygo, Hermann-Josef Lüdecke, Alma Kuechler, Lorenzo Sinibaldi
Rok vydání: 2019
Předmět:
0301 basic medicine
Adult
Male
congenital
hereditary
and neonatal diseases and abnormalities
Microcephaly
Clinodactyly
Xq28-duplication
Adolescent
Methyl-CpG-Binding Protein 2
Medizin
Rett syndrome
030105 genetics & heredity
Biology
03 medical and health sciences
Young Adult
Gene duplication
Chromosome Duplication
Genetics
medicine
FLNA
Humans
Genetic Predisposition to Disease
microcephaly
Hypertelorism
Child
Genetics (clinical)
Genetic Association Studies
Chromosomes
Human
X
developmental delay/intellectual disability
Brain
Facies
Low copy repeats
medicine.disease
Magnetic Resonance Imaging
nervous system diseases
Pedigree
030104 developmental biology
Phenotype
rab GTP-Binding Proteins
Mental Retardation
X-Linked
Aicardi–Goutières syndrome
Female
medicine.symptom
corpus callosum and cerebellar vermis hypoplasia
Zdroj: Clinical genetics. 96(3)
ISSN: 1399-0004
Popis: Two distinct genomic disorders have been linked to Xq28-gains, namely Xq28-duplications including MECP2 and Int22h1/Int22h2-mediated duplications involving RAB39B. Here, we describe six unrelated patients, five males and one female, with Xq28-gains distal to MECP2 and proximal to the Int22h1/Int22h2 low copy repeats. Comparison with patients carrying overlapping duplications in the literature defined the MidXq28-duplication syndrome featuring intellectual disability, language impairment, structural brain malformations, microcephaly, seizures and minor craniofacial features. The duplications overlapped for 108 kb including FLNA, RPL10 and GDI1 genes, highly expressed in brain and candidates for the neurologic phenotype.
Databáze: OpenAIRE
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