Submicroscopic interstitial deletion of the X chromosome explains a complex genetic syndrome dominated by Norrie disease

Gal, A.; Wieringa, B.; Smeets, D. F. C. M.; Bleeker-Wagemakers, Liesbeth M.; Ropers, H.-H.

doi:10.1159/000132282

Cited by 70 publications

(30 citation statements)

References 8 publications

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“…In general, the disorder is characterized by a progressive worsening of symptoms, and the life expectancy is only thirty years. The gene for Norrie's disease has been localized to the proximal short arm of the X-chromo some with close linkage to the region containing genes for MAO-A and MAO-B (Gal et al 1986;Donnai et al 1988). Some atypical Norrie's disease patients have been shown to have a deletion of this region, and there is a functional and structural absence of MAO-A and MAO-B (Sims et al 1989) with the expected neurochem ical changes .…”

Section: Discussionmentioning

confidence: 99%

Effects of Gestational Exposure to Monoamine Oxidase Inhibitors in Rats: Preliminary Behavioral and Neurochemical Studies

Whitaker‐Azmitia

Zhang

Clarke

1994

Neuropsychopharmacol

103

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Monoamine neurotransmitters are important in the development of the immature mammalian brain, prior to assuming their role as neurotransmitters. The endogenous levels of these transmitters are highly regulated by the enzyme monoamine oxidase (MAO). Thus, any change in this enzyme should have a profound effect on brain development. In order to test this hypothesis, we treated developing rat pups with the monoamine oxidase inhibitors (MAO-Is), dorgyline (MAO-A, 3 mg/kg), and deprenyl (MAO-B, 3 mg/kg) throughout gestation (MAO-I-birth), or throughout gestation and to sacrifice (MAO-I-sac). The animals were analyzed for serotonin and dopamine terminal density, using 3H-paroxetine and 3H-GBR 12935, respectively. Whereas there were no changes in the development of the dopamine system, the serotonin system was severely KEYWORDS: Serotonin; Monoamine oxidase; Monoamine oxidase inhibitors; Deprenyl; Clorgyline; Neurodevelopment; Impulsivity; Hyperactivity; Norrie's disease. affected, particularly in the cortex that showed a significant reduction of innervation at 30 days postnatal. The animals reached all normal development milestones on schedule, and had no changes in measures of anxiety (% light/dark); however, the animals showed increased open field activity and deficits in a passive avoidance paradigm, which may be a measure of impulsivity. The MAO-I-sac animals were severely impaired, showing stereotypic behavior, seizures, and eventually visual impairments. Our results are discussed in terms of relevance to human disease states, such as atypical Norrie's disease, impulsivity, and hyperactivity. As well, our results should be used to caution against the use of MAO-Is in women of child-bearing age.

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Section: Discussionmentioning

confidence: 99%

Effects of Gestational Exposure to Monoamine Oxidase Inhibitors in Rats: Preliminary Behavioral and Neurochemical Studies

Whitaker‐Azmitia

Zhang

Clarke

1994

Neuropsychopharmacol

103

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“…11 Atypical ND patients with a contiguous deletion of NDP and both MAO genes present with a more severe neurological involvement, with profound psychomotor and verbal deficits. [12][13][14][15][16][17] Affected individuals have also been noted to have growth retardation, seizures and display manneristic, self-injurious behaviours and often have delayed sexual maturation.…”

Section: Introductionmentioning

confidence: 99%

Deletion of MAOA and MAOB in a male patient causes severe developmental delay, intermittent hypotonia and stereotypical hand movements

et al. 2010

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Monoamine oxidases (MAO-A and MAO-B) have a key role in the degradation of amine neurotransmitters, such as dopamine, norepinephrine and serotonin. We identified an inherited 240 kb deletion on Xp11.3-p11.4, which encompasses both monoamine oxidase genes but, unlike other published reports, does not affect the adjacent Norrie disease gene (NDP). The brothers who inherited the deletion, and thus have no monoamine oxidase function, presented with severe developmental delay, intermittent hypotonia and stereotypical hand movements . The rapid degradation of bioactive monoamines by MAO isoenzymes is essential for appropriate synaptic neurotransmission, and monoaminergic signalling affects motor, perceptual, cognitive and emotional brain functions. 2 The MAOA and MAOB genes occur in tandem, suggesting an ancestral duplication event, but lie in opposite orientations on Xp11.23, where they share 70% identity at the amino-acid level and exhibit an identical organization of their 15 exons. 3,4 Despite this sequence similarity, MAO-A and MAO-B have distinct but overlapping substrate specificities and spatial and temporal expression patterns in the brain and peripheral tissues, although most tissues express both isoenzymes. [5][6][7] Previous reports of MAO gene deletions have always encompassed the adjacent NDP gene and are associated with an atypical presentation of Norrie disease (ND, OMIM no. 310600). ND is a neurodevelopmental disorder characterized by congenital blindness because of bilateral retinal malformation and lens opacity. To date, over 70 pathogenic NDP mutations have been identified. 8-10 Accessory phenotypes in 'classical' ND include progressive sensorineural deafness in approximately one-third of cases and some degree of intellectual disability, autism or psychosis in over 50% of cases. 11 Atypical ND patients with a contiguous deletion of NDP and both MAO genes

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“…The anomalies caused by Norrie disease (a syndrome associated with X-linked HL) include bilateral blindness, bilateral sensorineural HL, mental retardation and microphthalmia [96,97]. Poor growth, microcephaly, seizures, delay in sexual maturity, cardiovascular problems, pulmonary arterial hypertension and psychomotor retardation like complex symptoms are also seen in some patients [98][99][100][101][102][103][104][105]. Patients affected by AR Biotinidase deficiency syndrome shows the signs like deafness, hair loss, seizures, emesis, skin rashes and acidosis.…”

Section: Clinical Features Of Deafnessmentioning

confidence: 99%

Review Studies of GJB2 Gene in Patients with Hearing Impairment in Pakistan

Farooqi¹,

Khan²,

Ellaham³

et al. 2017

J Mol Genet Med

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Submicroscopic interstitial deletion of the X chromosome explains a complex genetic syndrome dominated by Norrie disease

Cited by 70 publications

References 8 publications

Effects of Gestational Exposure to Monoamine Oxidase Inhibitors in Rats: Preliminary Behavioral and Neurochemical Studies

Effects of Gestational Exposure to Monoamine Oxidase Inhibitors in Rats: Preliminary Behavioral and Neurochemical Studies

Deletion of MAOA and MAOB in a male patient causes severe developmental delay, intermittent hypotonia and stereotypical hand movements

Review Studies of GJB2 Gene in Patients with Hearing Impairment in Pakistan

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