ReviewBMC medical genetics2017
Severe congenital microcephaly with 16p13.11 microdeletion combined with NDE1 mutation, a case report and literature review.
Review in BMC medical genetics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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Who cites it
16 citing papers in PubMed, 26 citations in OpenAlex.
- Potential role of SLC6A3 in neurodevelopmental impairments associated with corpus callosum abnormalities: insights from CNV analysis and clinical phenotyping.Molecular cytogenetics · 2025Article
- Molecular Genetic and Clinical Characteristics of Fetuses With Chromosome 16 Short-Arm Microdeletions/Microduplications.Journal of clinical laboratory analysis · 2024Article
- Clinical and Genetic Characterization of Adolescent-Onset Epilepsy: A Single-Center Experience in Republic of Korea.Biomedicines · 2024Article
- Novel lissencephaly-associated NDEL1 variant reveals distinct roles of NDE1 and NDEL1 in nucleokinesis and human cortical malformations.Acta neuropathologica · 2024Article
- Clinical phenotype of the 16p.13.11 microdeletion: a case report with a mini review of the literature.Frontiers in genetics · 2024Article
- Severe Unilateral Microtia with Aural Atresia, Hair White Patch, Stereotypes in a Young Boy with De novo 16p13.11 Deletion: Reasons for a New Genotype-Phenotype Correlation.Global medical genetics · 2023Article
- Emerging principles of primary cilia dynamics in controlling tissue organization and function.The EMBO journal · 2023Review
- Genetic diagnosis of fetal microcephaly at a single tertiary center in China.Frontiers in genetics · 2023Article
- Deficiency ofiScience · 2022Article
- 16p13.11 deletion variants associated with neuropsychiatric disorders cause morphological and synaptic changes in induced pluripotent stem cell-derived neurons.Frontiers in psychiatry · 2022Article
- Whole Exome Sequencing in 16p13.11 Microdeletion Patients Reveals New Variants Through Deductive and Systems Medicine Approaches.Frontiers in genetics · 2022Article
- A Genomic Approach to Delineating the Occurrence of Scoliosis in Arthrogryposis Multiplex Congenita.Genes · 2021Article
- Performance of Chromosomal Microarray Analysis for Detection of Copy Number Variations in Fetal Echogenic Bowel.Risk management and healthcare policy · 2021Article
- Role ofFrontiers in neuroscience · 2020Article
- Nde1 promotes diverse dynein functions through differential interactions and exhibits an isoform-specific proteasome association.Molecular biology of the cell · 2018Article
- Parental origin of deletions and duplications - about the necessity to check for cryptic inversions.Molecular cytogenetics · 2018Article
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Authors and funding
7 authors at 1 institution in 1 country.
Funding
Abstract
backgroundMicrocephaly is a disorder characterized by severe impairment in brain development, reduced brain and head size. Congenital severe microcephaly is very rare, and NDE1 deletion and genetic mutations are important contributors. CASE PRESENTATION: Single nucleotide polymorphism (SNP) chromosomal microarray analysis (CMA) and muation screening of NDE1 gene were performed in an 8-month patient with severe congenital microcephaly, and/or his parents. Genetic studies found a 16p13.11 deletion containing NDE1 gene, and a novel NDE1 mutation c.555_556GC > CT on the non-deleted homolog, inherited from his phenotypically normal parents, respectively. The 2 bp nucleotide change results in a missense mutation p.K185 N and a nonsense mutation p.Q186X. We also conducted literaturte review to compare the clinical phenotypes of our patient to those of cases previously reported with NDE1 mutations, and found all patients had mental retardation, severe microcephaly, and corpus callosum agenesis.
conclusionThis is the first Chinese reported with microcephaly caused by NDE1 mutations. NDE1 is a critical pathogenetic gene in severe congenital microcephaly. Sequencing NDE1 and CMA in patients with severe congenital microcephaly may be warranted.
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