Jan 13, 2000

Duplication of 7p11.2-p13, including GRB10, in Silver-Russell syndrome

American Journal of Human Genetics
David MonkGudrun E Moore

Abstract

Silver-Russell syndrome (SRS) is characterized by pre- and postnatal growth failure and other dysmorphic features. The syndrome is genetically heterogeneous, but maternal uniparental disomy of chromosome 7 has been demonstrated in approximately 7% of cases. This suggests that at least one gene on chromosome 7 is imprinted and involved in the pathogenesis of SRS. We have identified a de novo duplication of 7p11.2-p13 in a proband with features characteristic of SRS. FISH confirmed the presence of a tandem duplication encompassing the genes for growth factor receptor-binding protein 10 (GRB10) and insulin-like growth factor-binding proteins 1 and 3 (IGFBP1 and -3) but not that for epidermal growth factor-receptor (EGFR). Microsatellite markers showed that the duplication was of maternal origin. These findings provide the first evidence that SRS may result from overexpression of a maternally expressed imprinted gene, rather than from absent expression of a paternally expressed gene. GRB10 lies within the duplicated region and is a strong candidate, since it is a known growth suppressor. Furthermore, the mouse homologue (Grb10/Meg1) is reported to be maternally expressed and maps to the imprinted region of proximal mouse chromosome...Continue Reading

  • References15
  • Citations77

Mentioned in this Paper

Trichohepatoenteric Syndrome
Trisomy 7
Short Tandem Repeat
Pathogenic Aspects
EGFR
Fluorescent in Situ Hybridization
RSS gene
Egfr
Pathogenesis
Cytogenetics

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