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Article

A 132 bp deletion affecting the KCNQ1OT1 gene associated with Silver-Russell syndrome clinical phenotype.

Journal of medical genetics - 1 Feb 2023

Gaudet Marie Véronique, Allain Eric Pierre, Gallant Lynne M, Arts Heleen H, Ben Amor Mouna

Abstract excerpt

BACKGROUND: Imprinting centre 2 (IC2) in the chromosomal region 11p15.5 regulates the monoallelic expression of imprinted genes by differential methylation of paternal and maternal chromosomes. Copy number variants in IC2 are associated with Beckwith-Wiedemann syndrome and Silver-Russell syndrome (SRS). Clinical outcome of IC2 deletions seems to depend on the parental origin of the chromosome, deletion size and...

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Identifiers

PMID: 35772847
DOI: 10.1136/jmedgenet-2021-108288
PMCID: PMC9887386

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A 132 bp deletion affecting the KCNQ1OT1 gene associated with Silver-Russell syndrome clinical phenotype.PMID 35772847Read ↗

Paternal 132 bp deletion affecting KCNQ1OT1 in 11p15.5 is associated with growth retardation but does not affect imprinting.Semantic proximity Read ↗

A paternally inherited 1.4 kb deletion of the 11p15.5 imprinting center 2 is associated with a mild familial Silver-Russell syndrome phenotype.Semantic proximity Read ↗

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