New rare genetic syndrome described

A new rare genetic syndrome likely combines the dual effect of copy-number variants in two chromosomal regions that had previously been described individually, according to an international research team. The study, published in the March issue of Cold Spring Harbor Molecular Case Studies, involved two brothers with cognitive and facial malformations as well as ambiguous genitalia. The researchers conducted chromosomal and whole-exome sequencing testing on the patients and their parents. Both patients have a terminal duplication of chromosome 16q involving 114 genes and a terminal deletion of chromosome 5p involving 50 genes. A literature search revealed previous reports of syndromes with some of the same clinical features as those of the patients in this study. The 5p terminal deletion is associated with speech delay. Craniofacial and genital-urinary abnormalities have been reported in patients with a terminal duplication of 16q. The authors suggest that changes to gene copy numbers in both genomic regions likely contribute to the complex array of physical abnormalities of the patients. “We anticipate that the unbiased dissection of large copy number variants similar in size to those identified in this study will become possible with the increased throughput of genome editing technologies in model organisms,” the researchers write. —Karyn Hede, News Editor

Now there’s a genetic excuse for quitting the band

Kanye West and Wolfgang Mozart probably have more in common than the admiration of their adoring fans. Like many other abilities that seem to come easily to some while eluding others, creativity in music can be traced, at least partially, to genetic variation. A recent study involving musical composers and arrangers in Finland found linkages to chromosomal regions containing genes previously shown to be involved in both musical ability and psychiatric disorders. The authors point out in their report, published February 2016 in PLOS One, that psychiatric disorders are more common among relatives of creative people, including composers and musicians. Two chromosomal regions stood out. Musical arranging was linked to chromosomes 16 and 2, specifically in regions containing genes expressed in the human brain. Composing was linked to chromosome 4, in a region containing genes involved in neural development and neural cell migration. The same region had previously been identified in a study of musical aptitude. Molecular pathway analysis revealed genes involved in the long-term depression (LTD) pathway. LTD is known to facilitate the acquisition of new information in the cerebellum, a brain structure shown to be active in musical improvisation, which is needed in composing. The researchers propose that creativity in music and musical ability have a common genetic origin at chromosome 4. So, if you find you can’t keep up in band, now you can blame your genes instead of your lack of practice.—Karyn Hede, News Editor