Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
3037110 | Brain and Development | 2014 | 6 Pages |
Abstract
Deletion of the monoamine oxidase (MAO)-A and MAO-B was detected in two male siblings and in their mother. The approximately 800-kb deletion, extending from about 43.0 MB to 43.8 MB, was detected by array comparative genomic hybridization analysis. The MAOA and MAOB genes were included in the deletion, but the adjacent Norrie disease gene, NDP, was not deleted. The boys had short stature, hypotonia, severe developmental delays, episodes of sudden loss of muscle tone, exiting behavior, lip-smacking and autistic features. The serotonin levels in their cerebrospinal fluid were extremely elevated. Another set of siblings with this deletion was reported previously. We propose recognition of MAOA/B deletion syndrome as a distinct disorder.
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Authors
Mari Saito, Takanori Yamagata, Ayumi Matsumoto, Yusuke Shiba, Masako Nagashima, Shuhei Taniguchi, Eriko Jimbo, Mariko Y Momoi,