A novel heterozygous ZBTB18 missense mutation in a family with non-syndromic intellectual disability
This study further validates WGS for the accurate molecular diagnosis of ID. (Source: Neurogenetics)
Source: Neurogenetics - July 31, 2023 Category: Genetics & Stem Cells Source Type: research
Spastic paraplegia type 76 due to novel CAPN1 mutations: three case reports with literature review
In this study, we identified three cases with SPG76, due to four variousCAPN1 mutations, presenting lower limb spasticity and ataxia, with or without bulbar involvement and emotional disorder. Among these, c.213dupG and c.1324G>A are first identified in this paper. The genotype-phenotype correlation of the SPG76 cases reported worldwide was further summarized. (Source: Neurogenetics)
Source: Neurogenetics - July 19, 2023 Category: Genetics & Stem Cells Source Type: research
Novel mutations and molecular pathways identified in patients with brain iron accumulation disorders
This study aimed to illustrate the genetic characteristics of BIADs and clarify their molecular mechanisms. A total of 84 patients with BIADs were recruited from April 2018 to October 2022 at Xuanwu Hospital. Clinical characteristics including family history, consanguineous marriage history, and age at onset (AAO) were collected and assessed by two senior neurologists. Neuroimaging data were conducted for all the patients, including cranial magnetic resonance imaging (MRI) and susceptibility-weighted imaging (SWI). Whole-exome sequencing (WES) and capillary electrophoresis for detecting sequence mutation and trinucleotide ...
Source: Neurogenetics - July 15, 2023 Category: Genetics & Stem Cells Source Type: research
Novel potentially pathogenic variants detected in genes causing intellectual disability and epilepsy in Polish families
ConclusionsThis shows that still a very large proportion of patients remain undiagnosed and may require further testing. The reason for the negative results of our analysis may be a non-genetic cause of the observed phenotypes or failure to detect the causative variant in the genome. In addition, the study clearly shows that analysis of the mtDNA genome is clinically relevant, as approximately 1% of patients with ID may have pathogenic variant in mitochondrial DNA. (Source: Neurogenetics)
Source: Neurogenetics - July 5, 2023 Category: Genetics & Stem Cells Source Type: research
RETRACTED ARTICLE: Clinical characterization of familial 1p36.3 microduplication
We report the two siblings of familial 1p36.3 microduplication, presenting with a severe global developmental delay, epilepsy, and a few dysmorphic features. They were referred to moderate-to-severe developmental delay (DD) and intellectual disability (ID). Both were considered eyelid myoclonus with absence of epilepsy (Jeavons syndrome). The EEG is characterized by widespread 2.5 –3.5 Hz spikes and spike slow complex wave, eye closure sensitivity, and photosensitivity. The children has same dysmorphic features, including mild bitemporal narrowing and sloping forehead, sparse eyebrows, hypertelorism, ptosis, strabismus,...
Source: Neurogenetics - July 1, 2023 Category: Genetics & Stem Cells Source Type: research
PSEN1/SLC20A2 double mutation causes early-onset Alzheimer ’s disease and primary familial brain calcification co-morbidity
AbstractPrimary familial brain calcification (PFBC; formerly Fahr ’s disease) and early-onset Alzheimer’s disease (EOAD) may share partially overlapping pathogenic principles. Although the heterozygousloss-of-function mutation c.1523 + 1G > T in the PFBC-linked geneSLC20A2 was detected in a patient with asymmetric tremor, early-onset dementia, and brain calcifications, CSF β-amyloid parameters and FBB-PET suggested cortical β-amyloid pathology. Genetic re-analysis of exome sequences revealed the probably pathogenic missense mutation c.235G > A/p.A79T inPSEN1. TheSLC20A2 mutation segregated with m...
Source: Neurogenetics - July 1, 2023 Category: Genetics & Stem Cells Source Type: research
Clinical characterization of familial 1p36.3 microduplication
We report the two siblings of familial 1p36.3 microduplication, presenting with a severe global developmental delay, epilepsy, and a few dysmorphic features. They were referred to moderate-to-severe developmental delay (DD) and intellectual disability (ID). Both were considered eyelid myoclonus with absence of epilepsy (Jeavons syndrome). The EEG is characterized by widespread 2.5 –3.5 Hz spikes and spike slow complex wave, eye closure sensitivity, and photosensitivity. The children has same dysmorphic features, including mild bitemporal narrowing and sloping forehead, sparse eyebrows, hypertelorism, ptosis, strabismus,...
Source: Neurogenetics - June 8, 2023 Category: Genetics & Stem Cells Source Type: research
Response to a letter to the editor
(Source: Neurogenetics)
Source: Neurogenetics - June 1, 2023 Category: Genetics & Stem Cells Source Type: research
