Neurogenetics
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Celia’s encephalopathy and c.974dupG in BSCL2 gene: a hidden change in a known variant
Neurogenetics - - 2019
Celia’s encephalopathy (progressive encephalopathy with/without lipodystrophy (PELD)) is a childhood neurodegenerative disorder with a fatal prognosis before the age of 10, due to the variant c.985C>T in the BSCL2 gene that causes a cryptic splicing site leading to skipping of exon 7. For years, different authors have reported cases of congenital generalized lipodystrophy due to the variant c.974d......
Expansion of the spectrum of TUBB4A-related disorders: a new phenotype associated with a novel mutation in the TUBB4A gene
Neurogenetics - Tập 15 - Trang 107-113 - 2014
Mutations in the TUBB4A gene have been identified so far in two neurodegenerative disorders with extremely different clinical features and course: whispering dysphonia, also known as dystonia type 4 (DYT4), and hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC). We describe a patient with slowly progressive spastic paraparesis, segmental dystonia, intellectual disability, beh......
Molecular genetic and clinical characterization of myotonic dystrophy type 1 patients carrying variant repeats within DMPK expansions
Neurogenetics - Tập 18 - Trang 207-218 - 2017
Myotonic dystrophy type 1 (DM1) is caused by a highly unstable expansion of CTG repeats in the DMPK gene. Its huge phenotypic variability cannot be explained solely by the repeat number. Recently, variant repeats within the DMPK expansions have emerged as potential disease modifiers. The frequency of variant expanded alleles was estimated in 242 DM1 patients from 174 Serbian families using repeat-......
Different spectra of genomic deletions within the CCM genes between Italian and American CCM patient cohorts
Neurogenetics - Tập 9 - Trang 25-31 - 2007
Cerebral cavernous malformations (CCMs) are vascular abnormalities of the brain that can result in hemorrhagic stroke and seizures. Familial forms of CCM are inherited in an autosomal-dominant fashion, and three CCM genes have been identified. We recently determined that large genomic deletions in the CCM2 gene represent 22% of mutations in a large CCM cohort from the USA. In particular, a 77.6 kb......
A biallelic loss-of-function variant in TMEM147 causes profound intellectual disability and spasticity
Neurogenetics - Tập 24 - Trang 311-316 - 2023
Intellectual disability (ID), occurring in syndromic or non-syndromic forms, is the most common neurodevelopmental disorder. Although many cases are caused by single gene defects, ID is highly genetically heterogeneous. Biallelic variants in the transmembrane protein TMEM147 have recently been linked to intellectual disability with dysmorphic facial features. TMEM147 is believed to localize to the......
Mutations in ARID2 are associated with intellectual disabilities
Neurogenetics - Tập 16 Số 4 - Trang 307-314 - 2015
Hypomyelinating leukodystrophy associated with a deleterious mutation in the ATRN gene
Neurogenetics - Tập 18 - Trang 135-139 - 2017
Hypomyelinating leukodystrophies are a group of neurodevelopmental disorders that affect proper formation of the myelin sheath in the central nervous system. They are characterized by developmental delay, hypotonia, spasticity, and variable intellectual disability. We used whole exome analysis to study the molecular basis of hypomyelinating leukodystrophy in two sibs from a consanguineous family. ......
The human small conductance calcium-regulated potassium channel gene (hSKCa3) contains two CAG repeats in exon 1, is on chromosome 1q21.3, and shows a possible association with schizophrenia
Neurogenetics - Tập 1 - Trang 259-265 - 1998
Mutations in various ion channel genes are responsible for neuromuscular and other neurological disorders. We have previously identified the human small conductance calcium-activated potassium channel gene (
hSKCa3
) which has two tandemly arranged CAG repeats in its 5' region. Here we have isolated the first genomic clones containing the gene and h......
Correction to: New Editors-in-Chief and future directions: a glimpse into the evolving future of Neurogenetics
Neurogenetics - - Trang 1-1 - 2024
Analysis of exon dosage using MLPA in South African Parkinson's disease patients
Neurogenetics - Tập 11 - Trang 305-312 - 2009
Genomic rearrangements (exon dosage) are common mutations reported in Parkinson's disease (PD) patients. In the present study, we aimed to investigate the prevalence of genomic rearrangements in 88 South African patients with predominantly early-onset PD (age-at-onset ≤50 years). The multiplex ligation-dependent probe amplification method was used to detect exon dosage changes. Two commercially av......
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