ArticleEuropean journal of human genetics : EJHG2018
The role of CNVs in the etiology of rare autosomal recessive disorders: the example of TRAPPC9-associated intellectual disability.
Article in European journal of human genetics : EJHG, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers, 1 of them a synthesis that pooled it.
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Who cites it
18 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Pooled it
- TRAPPopathies: Severe Multisystem Disorders Caused by Variants in Genes of the Transport Protein Particle (TRAPP) Complexes.International journal of molecular sciences · 2024Review
- Expanding the genetic and phenotypic spectrum of TRAPPC9 and MID2-related neurodevelopmental disabilities: report of two novel mutations, 3D-modelling, and molecular docking studies.Journal of human genetics · 2024Article
- Analysis of Consanguinity as Risk Factor of Nonsyndromic Cleft Lips with or without Palate.European journal of dentistry · 2024Article
- Article
- Allelic chromatin structure precedes imprinted expression ofGenes & development · 2023Article
- A novel homozygous mutation in TRAPPC9 gene causing autosomal recessive non-syndromic intellectual disability.BMC medical genomics · 2022Article
- Distinct Autism Spectrum Disorder Phenotype and Hand-Flapping Stereotypes: Two Siblings with Novel Homozygous Mutation inMolecular syndromology · 2022Article
- Biallelic loss of TRAPPC9 function links vesicle trafficking pathway to autosomal recessive intellectual disability.Journal of human genetics · 2022Article
- Biallelic variants in TRAPPC10 cause a microcephalic TRAPPopathy disorder in humans and mice.PLoS genetics · 2022Article
- Identification of two novel homozygous nonsense mutations in TRAPPC9 in two unrelated consanguineous families with intellectual Disability from Iran.Molecular genetics & genomic medicine · 2021Article
- Whole exome sequencing revealed novel variants in consanguineous Pakistani families with intellectual disability.Genes & genomics · 2021Article
- Novel Compound Heterozygous Mutation inGenes · 2021Article
- Emerging role of NIK/IKK2-binding protein (NIBP)/trafficking protein particle complex 9 (TRAPPC9) in nervous system diseases.Translational research : the journal of laboratory and clinical medicine · 2020Review
- Profound intellectual disability caused by homozygous TRAPPC9 pathogenic variant in a man from Malta.Molecular genetics & genomic medicine · 2020Article
- Two Novel Compound Heterozygous Mutations in the TRAPPC9 Gene Reveal a Connection of Non-syndromic Intellectual Disability and Autism Spectrum Disorder.Frontiers in genetics · 2020Article
- Novel Compound Heterozygous Mutations in theFrontiers in genetics · 2019Article
- Review
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Authors and funding
15 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
introductionA large number of genes involved in autosomal recessive forms of intellectual disability (ID) were identified over the past few years through whole-exome sequencing (WES) or whole-genome sequencing in consanguineous families. Disease-associated variants in TRAPPC9 were reported in eight multiplex consanguineous sibships from different ethnic backgrounds, and led to the delineation of the phenotype. Affected patients have microcephaly, obesity, normal motor development, severe ID, and language impairment and brain anomalies. PATIENTS: We report six new patients recruited through a national collaborative network.
resultsIn the two patients heterozygous for a copy-number variation (CNV), the phenotype was clinically relevant with regard to the literature, which prompted to sequence the second allele, leading to identification of disease-associated variants in both. The third patient was homozygote for an intragenic TRAPPC9 CNV. The phenotype of the patients reported was concordant with the literature. Recent reports emphasized the role of CNVs in the etiology of rare recessive disorders.
conclusionThis study demonstrates that CNVs significantly contribute to the mutational spectrum of TRAPPC9 gene, and also confirms the interest of combining WES with CNV analysis to provide a molecular diagnosis to patients with rare Mendelian disorders.
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