Absence of a paternally inherited FOXP2 gene in developmental verbal dyspraxia

Article Abstract:

Thirteen patients with developmental verbal dyspraxia (DVD)-5 with hemizygous paternal deletions spanning the FOXP2 gene, 1 with a translocation interrupting POXP2 and 7 with maternal uniparental disomy of chromosome 7 (UPD7), who are also given diagnosis of silver-Russell Syndrome (SRS) are characterized. The maternally inherited FOXP2 is comparatively underexpressed and results indicate that absence of paternal FOXP2 is the cause of DVD in patients with SRS with maternal UPD7.

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Molecular analysis of 9p deletions associated with XY sex reversal: refining the location of a sex-determining gene to the tip of the chromosome

Article Abstract:

A deletion-mapping analysis has been performed to determine the region of chromosome 9 connected with sex reversal. The region, 3-5 cM long, has a distal boundary between the telomere and D9S1779 and a proximal boundary between D9S129 and D9S143. Data for the study come from four patients with variable degrees of sex reversal, all monosomal for various sections of the short arm of chromosome 9.

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A longer polyalanine expansion mutation in the ARX gene causes early infantile epileptic encephalopathy with suppression burst pattern (Ohtahara syndrome)

Article Abstract:

The article shows that early infantile epileptic with suppression-burst pattern (EIEE) has a longer expansion of the polyalanine tract instead the one seen in west syndrome. And is consistent with the findings of the earlier onset and more-severe phenotypes in EIEE than in west syndrome.

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