We have performed whole-exome sequencing in a family trio with a 16-year-old girl suffering of progressive motor neuron disease. There was no family history of the disease and no parental consanguinity. Our exome analysis indicated the proband as a compound heterozygote for two missense variants in the TECPR2 gene according to a recessive mode of inheritance. The TECPR2 gene has been reported as a positive regulator of autophagy which is an essential mechanism for maintaining neuron homeostasis and survival and plays a key role in major adult and pediatric neurodegenerative diseases. Variants in this gene have been found responsible for a recently described form of hereditary spastic paraplegia called SPG49 in two previous reports. We propose that both variants causing amino acid substitution, p.Leu684Val and p.Thr903Met, inherited in trans-phase compound heterozygote form, can be responsible for the phenotype observed in our patient. We also consider the possible contribution of a heterozygous variant in the SPG7 gene. Sanger sequencing confirmed the segregation of variants within the family tree including the patient's unaffected brother.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1111/cge.12730 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Clinical phenotype and trio whole exome sequencing data from a patient with glycogen storage disease IV in Indonesia.
Data Brief
February 2025
Department of Child Health, Faculty of Medicine, Dr. Cipto Mangunkusumo Hospital, University of Indonesia, Jakarta 10430, Indonesia.
Glycogen storage disease type IV (GSD IV) is a rare disease caused by a defect in glycogen branching enzyme 1 (GBE1), which played a crucial role in glycogen branching. GSD IV occurs once in approximately 1 in every 760,000 to 960,000 live births and is inherited in an autosomal recessive pattern. Early diagnosis of GSD IV is challenging due to non-specific symptoms, such as liver and spleen enlargement, which can overlap with other hematologic and hepatobiliary disorders.
View Article and Find Full Text PDFIdentification of a cryptic unbalanced translocation Der(22)t(12;22)(q24.33;q13.33) in a large Chinese family with Phelan-McDermid syndrome by nanopore sequencing.
Sci Rep
January 2025
Reproductive Medicine Center, Jiangxi Maternal and Child Health Hospital, 318 Bayi Avenue, Nanchang, 330006, China.
To explore the genetic cause of a four-generation severe intellectual disability in a Chinese family using nanopore sequencing and to provide genetic counseling and reproductive guidance for family members. Multiple genetic analyses of the proband and family members were performed, including chromosome karyotype analysis, whole exome sequencing, nanopore sequencing, PCR amplification, and Sanger sequencing. The results of G-binding karyotyping, CGG repeats for FMR1, GGC repeats for NOTCH2NCL, and trio-whole-exome sequencing were negative for the proband and his parents.
View Article and Find Full Text PDFDias-Logan syndrome with a p.Leu360Profs*212 heterozygous pathogenic variant of in a Chinese patient: A case report.
SAGE Open Med Case Rep
January 2025
Department of Reproductive Medicine, Zhejiang Provincial Hospital of Integrated Traditional Chinese and Western Medicine & Hangzhou Red Cross Hospital, Zhejiang Chinese Medical University, Hangzhou, Zhejiang Province, China.
Dias-Logan syndrome, also known as intellectual developmental disorder with persistence of fetal hemoglobin (HbF), or -related intellectual developmental disorder, is an extremely rare neurogenetic disorder characterized by intellectual disability (ID), delayed psychomotor development, variable dysmorphic features, and asymptomatic persistence of fetal hemoglobin. The prevalence and incidence of this condition are currently unknown. We report an 8-year-old Han Chinese male patient with Dias-Logan syndrome who carries a heterozygous pathogenic variant, c.
View Article and Find Full Text PDFWhole Exome Sequencing Reveals Candidate Variants in Ion Channel Genes for Pelvic Muscle Dysfunction in Young Females with a Family History.
Int Urogynecol J
January 2025
Department of Medical Genetics, Warsaw Medical University, Pawinskiego 3C, 02-106, Warsaw, Poland.
Introduction And Hypothesis: Pelvic floor dysfunction usually results in pelvic organ prolapse (POP) and/or urinary incontinence. In women, several factors, including pregnancy and vaginal delivery, can affect pelvic muscle conditions. The aim of the study was to perform a genetic analysis in young women with a family history of pelvic floor dysfunction to find potentially harmful variants or variants that increase the risk of developing pelvic floor disorders.
View Article and Find Full Text PDFSNV/Indel and CNV Analysis in Trio-WES for Intellectual and Developmental Disabilities: Diagnostic Yield & Cost-Effectiveness.
Clin Genet
January 2025
Obstetrics and Gynecology Department, The Second Affiliated Hospital of Chongqing Medical University, Chongqing, China.
Intellectual and developmental disabilities (IDD) are clinically and genetically heterogeneous disorders of global concern. While whole exome sequencing (WES) is used to identify single nucleotide variants (SNVs) and small insertions/deletions (Indels) in IDD patients, its detection rate is limited. This study evaluated the value of integrating copy number variation (CNV) analysis into traditional SNV/Indel analysis based on trio-WES.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!