Microdeletions of the 7q32.2 imprinted region are associated with Silver-Russell syndrome features

The association of maternal uniparental disomy of human chromosome 7 (upd(7) mat) and the growth retardation disorder Silver–Russell syndrome (SRS) is well established, but the causative gene or region is currently unknown. However, several observations indicate that molecular alterations of the gen...

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Bibliographic Details
Published in:American journal of medical genetics. Part A 2016-03, Vol.170A (3), p.743-749
Main Authors: Carrera, Ignacio Arroyo, de Zaldívar, María Solo, Martín, Rebeca, Begemann, Matthias, Soellner, Lukas, Eggermann, Thomas
Format: Article
Language:English
Subjects:
Adolescent
Alleles
Chromosome Deletion
Chromosomes, Human, Pair 7
Computational Biology - methods
DNA Methylation
Facies
Genetic Association Studies
Genomic Imprinting
Humans
Male
MEST
microdeletion 7q32.2
Phenotype
Silver-Russell syndrome
Silver-Russell Syndrome - diagnosis
Silver-Russell Syndrome - genetics
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Summary:The association of maternal uniparental disomy of human chromosome 7 (upd(7) mat) and the growth retardation disorder Silver–Russell syndrome (SRS) is well established, but the causative gene or region is currently unknown. However, several observations indicate that molecular alterations of the genomically imprinted MEST region in 7q32.2 are associated with growth retardation and a phenotype reminiscent to SRS. We now report on a second patient with a similar phenotype and a de novo 7q32.2 microdeletion including MEST affecting the paternal allele. This confirms the central role of imprinted genes in 7q32.2 in the etiology of a growth retardation phenotype associated with SRS features. © 2015 Wiley Periodicals, Inc.
ISSN:1552-4825
1552-4833
DOI:10.1002/ajmg.a.37492