Journal ArticleDOI
MAOA/B deletion syndrome in male siblings with severe developmental delay and sudden loss of muscle tonus.
Mari Saito,Takanori Yamagata,Ayumi Matsumoto,Yusuke Shiba,Masako Nagashima,Shuhei Taniguchi,Eriko F. Jimbo,Mariko Y. Momoi +7 more
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TLDR
In this paper, the monoamine oxidase (MAO)-A and MAO-B genes were included in the deletion, but the adjacent Norrie disease gene, NDP, was not deleted.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 43.0MB to 43.8MB, 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.read more
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Journal ArticleDOI
Monoamine neurotransmitter disorders—clinical advances and future perspectives
TL;DR: The clinical features, diagnosis and management of monoamine neurotransmitter disorders are discussed, and novel concepts, the latest advances in research and future prospects for therapy are considered.
Journal ArticleDOI
A proposed nosology of inborn errors of metabolism
TL;DR: A master list of all currently recognized inborn errors of metabolism grouped according to their pathophysiological basis is provided, with the hope of setting a standard against which new errors should be defined, as well as to promote awareness and foster collaboration in the area.
Journal ArticleDOI
20 ans après: a second mutation in MAOA identified by targeted high-throughput sequencing in a family with altered behavior and cognition.
Amélie Piton,Amélie Piton,Hélène Poquet,Claire Redin,Claire Redin,Alice Masurel,Julia Lauer,Jean Muller,Julien Thevenon,Yvan Herenger,Sophie Chancenotte,Marlène Bonnet,Jean-Michel Pinoit,Frédéric Huet,Christel Thauvin-Robinet,Anne-Sophie Jaeger,Stéphanie Le Gras,Bernard Jost,Bénédicte Gérard,Katell Peoc'h,Jean-Marie Launay,Laurence Faivre,Jean-Louis Mandel,Jean-Louis Mandel +23 more
TL;DR: The identification of this new point mutation confirms, for the first time since 1993, the monogenic implication of the MAOA gene in ID of various degrees, autism and behavioral disturbances.
Journal ArticleDOI
Extreme enhancement or depletion of serotonin transporter function and serotonin availability in autism spectrum disorder.
TL;DR: It is postulate that extreme bidirectional perturbations of these factors during development likely compound or synergize to facilitate enduring neurochemical changes resulting in insufficient or excessive 5-HT signaling, that could underlie the persistent behavioral characteristics of autism spectrum disorder.
Journal ArticleDOI
From aggression to autism: new perspectives on the behavioral sequelae of monoamine oxidase deficiency.
TL;DR: How the convergence of clinical reports and behavioral phenotyping in mutant mice has helped frame a complex picture of psychopathological features in MAO-deficient individuals is summarized, posing novel conceptual challenges towards the identification of the endophenotypes shared by autism-spectrum disorder, antisocial behavior and impulse-control problems, as well as their monoaminergic underpinnings.
References
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Book ChapterDOI
de la Chapelle, A.
Peter Beighton,Greta Beighton +1 more
TL;DR: De la Chapelle dysplasia, also known as atelosteogenesis type II, is a lethal form of neonatal dwarfism in which gross limb shortening is associated with a characteristic triangular configuration of the radius and ulna.
Journal ArticleDOI
Abnormal behavior associated with a point mutation in the structural gene for monoamine oxidase A
TL;DR: Analytical results indicate that isolated complete MAOA deficiency in this family is associated with a recognizable behavioral phenotype that includes disturbed regulation of impulsive aggression.
Journal ArticleDOI
Monoamine oxidase: from genes to behavior.
Jean C. Shih,K. Chen,M. J. Ridd +2 more
TL;DR: MAO A and B knock-out mice are valuable models for investigating the role of monoamines in psychoses and neurodegenerative and stress-related disorders and show increased reactivity to stress.
Journal ArticleDOI
Neonatal Signs After Late In Utero Exposure to Serotonin Reuptake Inhibitors: Literature Review and Implications for Clinical Applications
Eydie L. Moses-Kolko,Debra L. Bogen,James M. Perel,Amy Bregar,Kathleen Uhl,Bob Levin,Katherine L. Wisner +6 more
TL;DR: Available evidence indicates that in utero exposure to SRIs during the last trimester through delivery may result in a self-limited neonatal behavioral syndrome that can be managed with supportive care.
Journal ArticleDOI
Specific genetic deficiencies of the A and B isoenzymes of monoamine oxidase are characterized by distinct neurochemical and clinical phenotypes.
Jacques W.M. Lenders,Graeme Eisenhofer,N. G. G. M. Abeling,Wolfgang Berger,Dennis L. Murphy,C. H. Konings,L. M. B. Wagemakers,Irwin J. Kopin,F. Karoum,A. H. Van Gennip,Han G. Brunner +10 more
TL;DR: Differences in neurochemical profiles indicate that, under normal conditions, MAO-A is considerably more important thanMAO-B in the metabolism of biogenic amines, a factor likely to contribute to the different clinical phenotypes.