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Cited by 276Retinal Development and DisordersGenomics and Rare DiseasesRetinal Diseases and Treatments

Autozygome-guided exome sequencing in retinal dystrophy patients reveals pathogenetic mutations and novel candidate disease genes.

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Abu-Safieh, Leen, Alrashed, May, Anazi, Shamsa, Alkuraya, Hisham, Khan, Arif O., Al-Owain, Mohammed, Al-Zahrani, Jawahir, Al-Abdi, Lama +13 more·2013·Genome Research
DOI 10.1101/gr.144105.112PMC PMC3561865
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Abstract

Retinal dystrophy (RD) is a heterogeneous group of hereditary diseases caused by loss of photoreceptor function and contributes significantly to the etiology of blindness globally but especially in the industrialized world. The extreme locus and allelic heterogeneity of these disorders poses a major diagnostic challenge and often impedes the ability to provide a molecular diagnosis that can inform counseling and gene-specific treatment strategies. In a large cohort of nearly 150 RD families, we used genomic approaches in the form of autozygome-guided mutation analysis and exome sequencing to identify the likely causative genetic lesion in the majority of cases. Additionally, our study revealed six novel candidate disease genes (C21orf2, EMC1, KIAA1549, GPR125, ACBD5, and DTHD1), two of which (ACBD5 and DTHD1) were observed in the context of syndromic forms of RD that are described for the first time.

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  • All 14 reported patients exhibited reduced psychomotor abilities, which progressed to a complete inability to walk in the following years.

    “All 14 reported patients exhibited reduced psychomotor abilities, which progressed to a complete inability to walk in the following years”

    From The neurological pathology of peroxisomal ACBD5 deficiency – lessons from patients and mouse models (2025) · cites this paper as Abu-Safieh et al., 2013

    The Results section, “Exome as a discovery tool for novel RD genes” (page unavailable), reports psychomotor delay in a family with three affected siblings. It does not report that all 14 patients had reduced psychomotor abilities or that they later became unable to walk. (LLM, conf=0.83)

    Experimental — accuracy not yet measured

  • To date, eight publications have reported on 16 patients with ACBD5 deficiency.

    “To date, eight publications have reported on 16 patients with ACBD5 deficiency”

    From The neurological pathology of peroxisomal ACBD5 deficiency – lessons from patients and mouse models (2025) · cites this paper as Abu-Safieh et al., 2013

    The Results section (‘Exome as a discovery tool for novel RD genes’; page unavailable) describes three affected siblings with an ACBD5 splice-site variant and near-absence of ACBD5 protein. It does not report a tally of eight publications or 16 patients, so it supports an ACBD5 patient report but not the attributed totals. (LLM, conf=0.83)

    Experimental — accuracy not yet measured

  • Rod-cone or cone-rod dystrophies affecting both photoreceptor types were described in at least nine patients.

    “Rod-cone or cone-rod dystrophies, affecting both photoreceptor types, were described in at least nine patients”

    From The neurological pathology of peroxisomal ACBD5 deficiency – lessons from patients and mouse models (2025) · cites this paper as Abu-Safieh et al., 2013

    The introductory passage explains that rod-cone and cone-rod dystrophies eventually affect both photoreceptor types. The Results (Clinical characteristics) and Methods (Human subjects) show that the study included patients with cone-rod dystrophy, but the passages found do not establish the claimed minimum of nine patients. (LLM, conf=0.80)

    Experimental — accuracy not yet measured

  • Other features of ataxia, dysarthria, cleft palate, facial dysmorphisms, progressive microcephaly, and seizures are reported sporadically in ACBD5-related retinal dystrophy with leukodystrophy.

    “Other features of ataxia, dysarthria, cleft palate, facial dysmorphisms, progressive microcephaly, and seizures are reported sporadically (Abu-Safieh et al., 2013;Bartlett et al., 2021;Ferdinandusse et al., 2017;Gorukmez et al., 2022).”

    From <scp>ACBD5</scp>‐related retinal dystrophy with leukodystrophy due to novel mutations in <i>ACBD5</i> and with additional features including ovarian insufficiency (2024) · cites this paper as Abu-Safieh et al., 2013

    The Results section ('Exome as a discovery tool for novel RD genes'; page not provided) reports an ACBD5 variant in siblings with cone-rod dystrophy, psychomotor delay, and significant white-matter involvement. It does not report the listed additional features—ataxia, dysarthria, cleft palate, facial dysmorphisms, progressive microcephaly, or seizures—so this source supports the disease context but not those features. (LLM, conf=0.85)

    Experimental — accuracy not yet measured

  • Rod-cone dystrophy, delayed or regression of motor development, progressive cognitive decline, and imaging features of a progressive leukodystrophy are common features of ACBD5-related retinal dystrophy with leukodystrophy.

    “Rod-cone dystrophy, delayed or regression of motor development, progressive cognitive decline, and imaging features of a progressive leukodystrophy are common features (Abu-Safieh et al., 2013;Bartlett et al., 2021;Ferdinandusse et al., 2017;Gorukmez et al., 2022).”

    From <scp>ACBD5</scp>‐related retinal dystrophy with leukodystrophy due to novel mutations in <i>ACBD5</i> and with additional features including ovarian insufficiency (2024) · cites this paper as Abu-Safieh et al., 2013

    The Results section (page unavailable) reports cone-rod dystrophy, psychomotor delay, and significant white-matter involvement in three siblings with an ACBD5 variant. It does not describe rod-cone dystrophy, motor regression, progressive cognitive decline, or imaging evidence of progressive leukodystrophy, nor does this single family establish those findings as common features. (LLM, conf=0.88)

    Experimental — accuracy not yet measured

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Authors
Abu-Safieh, L., Alrashed, M., Anazi, S., Alkuraya, H., Khan, A. O., Al-Owain, M., Al-Zahrani, J., Al-Abdi, L., Hashem, M., Al-Tarimi, S., Sebai, M.-A., Shamia, A., Ray-zack, M. D., Nassan, M., Al-Hassnan, Z. N., Rahbeeni, Z., Waheeb, S., Alkharashi, A., Abboud, E., Al-Hazzaa, S. A. F., & Alkuraya, F. S.
Affiliations
  • King Faisal Specialist Hospital & Research Centre (SA)
  • Imam Mohammad ibn Saud Islamic University (SA)
  • King Khaled Eye Specialist Hospital (SA)
  • King Abdulaziz University (SA)
  • Alfaisal University (SA)
Corresponding author
Alkuraya, Fowzan S.
ORCID
Venue
Genome Research
Publisher
Cold Spring Harbor Laboratory
Published
2012-10-26
Volume
23
Issue
2
Pages
236-247
ISSN
1088-9051 (ISSN-L)
DOI
10.1101/gr.144105.112
PMC
PMC3561865
OpenAlex
W2103376319
Cited by
276
References
64
Citations by year
2026: 7 · 2025: 15 · 2024: 18 · 2023: 24 · 2022: 15 · 2021: 22 · 2020: 21 · 2019: 22 · 2018: 17 · 2017: 31 · 2016: 26 · 2015: 20 · 2014: 26 · 2013: 11 · 2012: 1
Type
posted content
Language
en
Open access
Locations
  • Genome Research (publishedVersion)
  • Europe PMC (PubMed Central) (publishedVersion, cc-by-nc)
  • PubMed Central (publishedVersion, cc-by-nc)
  • PubMed (publishedVersion)
  • UCL Discovery (University College London) (submittedVersion)
  • HighWire Press Open Archive (submittedVersion)
Funders
  • Dubai Harvard Foundation for Medical Research
  • King Abdulaziz City for Science and Technology (08-MED4972-0)
Topics
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Retinal Development and Disorders
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
  • Health Sciences › Medicine › Ophthalmology › Retinal Diseases and Treatments
Keywords
retinal dystrophy, exome sequencing, pathogenic variants, photoreceptor function, molecular diagnosis, locus heterogeneity, allelic heterogeneity
MeSH terms
Family, Genotype, Humans, Mutation, Phenotype, Sequence Analysis, DNA, Genetic Association Studies, Retinal Dystrophies, Exome

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