ArticleEuropean journal of human genetics : EJHG2020
First-line exome sequencing in Palestinian and Israeli Arabs with neurological disorders is efficient and facilitates disease gene discovery.
Article in European journal of human genetics : EJHG, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 20 papers.
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20 citing papers in PubMed, 35 citations in OpenAlex.
- ADAT3 variants disrupt the activity of the ADAT tRNA deaminase complex and impair neuronal migration.Brain : a journal of neurology · 2025Article
- Acute neurological regression following fever as presenting sign of pontocerebellar hypoplasia type 2D (Biomedical reports · 2025Article
- Genomic sequencing: the case for equity of care in the era of personalized medicine.Pediatric research · 2025Review
- Investigating knowledge and attitudes toward genetic testing and counseling among palestinians.Scientific reports · 2025Article
- Three Iranian patients with rare subtypes of hereditary spastic paraplegia (HSP): SPG76, SPG56, and SPG69.Neurogenetics · 2024Article
- Pontocerebellar Hypoplasia Type 9: A New Case with a Novel Mutation and Review of Literature.Journal of pediatric genetics · 2024Article
- Genetic Analysis of 252 Index Cases with Inherited Retinal Diseases Using a Panel of 351 Retinal Genes.Genes · 2024Article
- Analysis of the Clinical Features and Imaging Findings of Pontocerebellar Hypoplasia Type 2D Caused by Mutations in SEPSECS Gene.Cerebellum (London, England) · 2023Article
- Identification of founder and novel mutations that cause congenital insensitivity to pain (CIP) in palestinian patients.BMC medical genomics · 2023Article
- Emerging Epidemiological Data on Rare Intellectual Disability Syndromes from Analyzing the Data of a Large Iranian Cohort.Archives of Iranian medicine · 2023Article
- Exome sequencing for structurally normal fetuses-yields and ethical issues.European journal of human genetics : EJHG · 2023Article
- Article
- Ataxia with oculomotor apraxia type 1 associated with mutation in the APTX gene: A case study and literature review.Experimental and therapeutic medicine · 2022Article
- Structural basis for sequence-independent substrate selection by eukaryotic wobble base tRNA deaminase ADAT2/3.Nature communications · 2022Article
- Cardiomyopathies in Children and Systemic Disorders When Is It Useful to Look beyond the Heart?Journal of cardiovascular development and disease · 2022Review
- Clinical heterogeneity of hyperornithinemia-hyperammonemia-homocitrullinuria syndrome in thirteen palestinian patients and report of a novel variant in theFrontiers in genetics · 2022Article
- The structure of the mouse ADAT2/ADAT3 complex reveals the molecular basis for mammalian tRNA wobble adenosine-to-inosine deamination.Nucleic acids research · 2021Article
- Bi-allelic loss-of-function variants in BCAS3 cause a syndromic neurodevelopmental disorder.American journal of human genetics · 2021Article
- Increasing involvement of CAPN1 variants in spastic ataxias and phenotype-genotype correlations.Neurogenetics · 2021Article
- Autozygosity-driven genetic diagnosis in consanguineous families from Italy and the Greater Middle East.Human genetics · 2020Article
Corrections and comments
- Erratum issued
Authors and funding
19 authors at 11 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
A high rate of consanguinity leads to a high prevalence of autosomal recessive disorders in inbred populations. One example of inbred populations is the Arab communities in Israel and the Palestinian Authority. In the Palestinian Authority in particular, due to limited access to specialized medical care, most patients do not receive a genetic diagnosis and can therefore neither receive genetic counseling nor possibly specific treatment. We used whole-exome sequencing as a first-line diagnostic tool in 83 Palestinian and Israeli Arab families with suspected neurogenetic disorders and were able to establish a probable genetic diagnosis in 51% of the families (42 families). Pathogenic, likely pathogenic or highly suggestive candidate variants were found in the following genes extending and refining the mutational and phenotypic spectrum of these rare disorders: ACO2, ADAT3, ALS2, AMPD2, APTX, B4GALNT1, CAPN1, CLCN1, CNTNAP1, DNAJC6, GAMT, GPT2, KCNQ2, KIF11, LCA5, MCOLN1, MECP2, MFN2, MTMR2, NT5C2, NTRK1, PEX1, POLR3A, PRICKLE1, PRKN, PRX, SCAPER, SEPSECS, SGCG, SLC25A15, SPG11, SYNJ1, TMCO1, and TSEN54. Further, this cohort has proven to be ideal for prioritization of new disease genes. Two separately published candidate genes (WWOX and PAX7) were identified in this study. Analyzing the runs of homozygosity (ROHs) derived from the Exome sequencing data as a marker for the rate of inbreeding, revealed significantly longer ROHs in the included families compared with a German control cohort. The total length of ROHs correlated with the detection rate of recessive disease-causing variants. Identification of the disease-causing gene led to new therapeutic options in four families.
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