Intragenic Microdeletion of ULK4 and Partial Microduplication of BRWD3 in Siblings with Neuropsychiatric Features and Obesity

We report on 2 brothers, aged 7.6 and 20 years, presenting with cognitive impairment, epilepsy, autistic features, hearing loss, and obesity. Array-CGH analysis demonstrated 2 rare CNVs in both siblings: a paternally inherited microdeletion of ∼145 kb at 3p22.1, disrupting theULK4 gene, and a maternally inherited microduplication of ∼117 kb at Xq21.1 including only theBRWD3 gene. As already described for other recurrent syndromes with variable phenotype, these findings are challenging in genetic counseling because of an evident variable penetrance. We discuss the possible correlations between the clinical phenotype of our patients and the function of the genes involved in these microrearrangements.Cytogenet Genome Res
Source: Cytogenetic and Genome Research - Category: Genetics & Stem Cells Source Type: research

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Authors: BaHammam AS, Almeneessier AS Abstract Previous studies have assessed the role of gender and menopause in Obstructive Sleep Apnea (OSA). It is well known that menopause is a major risk factor for OSA. However, analogous studies on obesity Hypoventilation Syndrome (OHS) are limited. Recent studies have suggested that OHS is more prevalent in postmenopausal women. Moreover, women with OHS seem to have excess comorbidities, including hypothyroidism, hypertension, pulmonary hypertension, and diabetes mellitus, compared to men. In the present perspective, we discuss recent data on the prevalence and comorbiditie...
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Source: Epilepsy and Behavior - Category: Neurology Source Type: research
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Source: Epilepsy and Behavior - Category: Neurology Source Type: research
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Source: Epilepsy and Behavior - Category: Neurology Source Type: research
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Source: Epilepsy and Behavior - Category: Neurology Source Type: research
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Source: Epilepsy and Behavior - Category: Neurology Source Type: research
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Source: Epilepsy and Behavior - Category: Neurology Source Type: research
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Source: Epilepsy and Behavior - Category: Neurology Source Type: research
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Source: Epilepsy and Behavior - Category: Neurology Source Type: research
We report on 2 brothers, aged 7.6 and 20 years, presenting with cognitive impairment, epilepsy, autistic features, hearing loss, and obesity. Array-CGH analysis demonstrated 2 rare CNVs in both siblings: a paternally inherited microdeletion of ∼145 kb at 3p22.1, disrupting theULK4 gene, and a maternally inherited microduplication of ∼117 kb at Xq21.1 including only theBRWD3 gene. As already described for other recurrent syndromes with variable phenotype, these findings are challenging in genetic counseling because of an evident variable penetrance. We discuss the possible correlations between the clinical phenotype...
Source: Cytogenetic and Genome Research - Category: Genetics & Stem Cells Source Type: research
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