Multiple mechanisms are implicated in the generation of 5q35 microdeletions in Sotos syndrome.

ABSTRACT:

Background

Sotos syndrome is characterised by learning difficulties, overgrowth, and a typical facial appearance. Microdeletions at 5q35.3, encompassing NSD1, are responsible for approximately 10% of non-Japanese cases of Sotos. In contrast, a recurrent approximately 2 Mb microdeletion has been reported as responsible for approximately 50% of Japanese cases of Sotos.

Methods

We screened 471 cases for NSD1 mutations and deletions and identified 23 with 5q35 microdeletions. We investigated the deletion size, parent of origin, and mechanism of generation in these and a further 10 cases identified from published reports. We used "in silico" analyses to investigate whether repetitive elements that could generate microdeletions flank NSD1.

Results

Three repetitive elements

SUBMITTER: Tatton-Brown K 

PROVIDER: S-EPMC1736029 | biostudies-literature | 2005 Apr

REPOSITORIES: biostudies-literature