Although there are numerous reports of heterozygous 15q13.3 microdeletion, homozygous 15q13.3 microdeletion is rare. We report a new patient with homozygous microdeletion of 15q13.2q13.3 and review ...the previous literature reports. Common clinical features include encephalopathy, hypotonia, developmental delay, cortical vision impairment, optic nerve abnormality, epilepsy, and abnormal electroencephalogram (EEG) findings.
Although there are numerous reports of heterozygous 15q13.3 microdeletion, homozygous 15q13.3 microdeletion is rare. We report a new patient with homozygous microdeletion of 15q13.2q13.3 and review the previous literature reports. Common clinical features include encephalopathy, hypotonia, developmental delay, cortical vision impairment, optic nerve abnormality, epilepsy, and abnormal EEG findings.
Neuroligin 4 (NLGN4) is a member of a cell adhesion protein family that appears to play a role in the maturation and function of neuronal synapses. Mutations in the X-linked NLGN4 gene are a ...potential cause of autistic spectrum disorders, and mutations have been reported in several patients with autism, Asperger syndrome, and mental retardation. We describe here a family with a wide variation in neuropsychiatric illness associated with a deletion of exons 4, 5, and 6 of NLGN4. The proband is an autistic boy with a motor tic. His brother has Tourette syndrome and attention deficit hyperactivity disorder. Their mother, a carrier, has a learning disorder, anxiety, and depression. This family demonstrates that NLGN4 mutations can be associated with a wide spectrum of neuropsychiatric conditions and that carriers may be affected with milder symptoms.
Atypical cases of Angelman syndrome Lawson‐Yuen, Amy; Wu, Bai‐Lin; Lip, Va ...
American journal of medical genetics. Part A,
1 November 2006, Letnik:
140A, Številka:
21
Journal Article
Elevation of homocysteine is implicated in multiple medical conditions, including classical homocystinuria, a variety of remethylation disorders, and most recently in coronary artery disease. Betaine ...is a methyl donor agent that is beneficial in lowering homocysteine through the remethylation of methionine. Betaine therapy alone has been shown to prevent vascular events in homocystinuria and may have clinical benefits in other hyperhomocysteinemic disorders when used as adjunctive therapy. Betaine does raise the methionine level and cerebral edema has occurred when plasma methionine exceeds 1000
μmol/L. Thus the plasma methionine as well as homocysteine must be monitored in patients receiving betaine.
Interstitial deletions of the proximal long arm of chromosome 3 are rare. Only eight previously reported patients have deletions involving the proximal segment of 3q. Of these patients, three had ...agenesis of the corpus callosum and one had holoprosencephaly. We report here a patient with a small unique interstitial deletion of the long arm of chromosome 3 spanning 3q13.1q13.3. This patient has agenesis of the corpus callosum, global developmental delay, and distinctive facial features of a small nose, anteverted nares, and broad nasal root. Our patient provides further evidence that a gene involved in corpus callosum development or neuronal migration may reside in this region.
Mutations in the transcriptional repressor methyl CpG binding protein 2 (MeCP2) are responsible for most cases of Rett Syndrome (RS), a severe neurodevelopmental disorder characterized by ...developmental regression, minimal speech, seizures, postnatal microcephaly and hand stereotypies. Absence of the maternal copy of ubiquitin protein ligase 3A (UBE3A) results in Angelman syndrome, also a severe developmental disorder that shares some clinical features with RS. As MeCP2 regulates gene expression, this has led to the hypothesis that MeCP2 may regulate UBE3A expression; however, there are conflicting reports regarding the expression of Ube3a in MeCP2 null mutant mice. We have generated a novel MeCP2 mutant knock-in mouse with the mutation R168X, one of the most common mutations in patients with RS. These mice show features similar to RS, including hypoactivity, forelimb stereotypies, breathing irregularities, weight changes, hind limb atrophy, and scoliosis. The male mice experience early death. Analysis of Ube3a mRNA and protein levels in the Mecp2(R168X) male mice showed no significant difference in expression compared to their wild type littermates.
Abstract Mutations in the transcriptional repressor methyl CpG binding protein 2 ( MeCP2 ) are responsible for most cases of Rett Syndrome (RS), a severe neurodevelopmental disorder characterized by ...developmental regression, minimal speech, seizures, postnatal microcephaly and hand sterotypies. Absence of the maternal copy of ubiquitin protein ligase 3A ( UBE3A ) results in Angelman syndrome, also a severe developmental disorder that shares some clinical features with RS. As MeCP2 regulates gene expression, this has led to the hypothesis that MeCP2 may regulate UBE3A expression; however, there are conflicting reports regarding the expression of Ube3a in MeCP2 null mutant mice. We have generated a novel MeCP2 mutant knock-in mouse with the mutation R168X, one of the most common mutations in patients with RS. These mice show features similar to RS, including hypoactivity, forelimb stereotypies, breathing irregularities, weight changes, hind limb atrophy, and scoliosis. The male mice experience early death. Analysis of Ube3a mRNA and protein levels in the Mecp2 R168X male mice showed no significant difference in expression compared to their wild type littermates.
Although there are numerous reports of heterozygous 15q13.3 microdeletion, homozygous 15q13.3 microdeletion is rare. We report a new patient with homozygous microdeletion of 15q13.2q13.3 and review ...the previous literature reports. Common clinical features include encephalopathy, hypotonia, developmental delay, cortical vision impairment, optic nerve abnormality, epilepsy, and abnormal electroencephalogram (EEG) findings.
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