Characterization of three new deletions in the β-globin gene cluster during a screening survey in two French urban areas.

Background: Deletions represent about 5% of the mutations in the β-globin gene cluster. We report here the screening for such deletions in the two French urban areas of Paris and Lyon between 2003 and 2010.

Methods: Semi-quantitative PCR methods were used for the first screening of deletions.

A novel PCR approach for prenatal detection of the common NEMO rearrangement in incontinentia pigmenti.

Objectives: Incontinentia pigmenti (IP) is a rare X-linked dominant genodermatosis that is usually lethal in males in the prenatal period. Largely 80% of cases are accounted for by a large-scale deletion encompassing exons 4 to 10 of the NEMO gene. The aim of this work was to facilitate prenatal diagnosis of IP by devising a novel test for detection of the prevalent NEMO deletion.

NDP gene mutations in 14 French families with Norrie disease.

Norrie disease is a rare X-inked recessive condition characterized by congenital blindness and occasionally deafness and mental retardation in males. This disease has been ascribed to mutations in the NDP gene on chromosome Xp11.1.