CNV and nervous system diseases - what's new?

Several new genomic disorders caused by copy number variation (CNV)
of genes whose dosage is critical for the physiological function of
the nervous system have been recently identified. Dup(7)(q11.23)
patients carry duplications of the genomic region deleted in
Williams-Beuren syndrome, they are characterized by prominent
speech delay. The phenotypes of Potocki-Lupski syndrome and MECP2
duplication syndrome were neuropsychologically examined in detail,
which revealed autism as an endophenotype and a prominent
behavioral feature of these disorders. Tandem duplication of LMNB1
was reported to cause adult-onset autosomal dominant
leukodystrophy. PAFAH1B1/LIS1 and YWHAE, which were deleted in
isolated lissencephaly (PAFAH1B1/LIS1 alone) and Miller-Dieker
syndrome (both genes), were found to be duplicated in patients with
developmental delay. Finally, two novel microdeletion syndromes
affecting 17q21.31 and 15q13.3, as well as their reciprocal
duplications, were also identified. In this review, we provide an
overview of the phenotypic manifestation of these syndromes and the
rearrangements causing them. Copyright (C) 2009 S. Karger AG, Basel