Evidence map›Paper›PMID 39073169›Full record

ArticleAnnals of neurology2024

SRPK3 Is Essential for Cognitive and Ocular Development in Humans and Zebrafish, Explaining X-Linked Intellectual Disability.

Arkaprava Roychaudhury, Yu-Ri Lee, Tae-Ik Choi, Mervyn G Thomas, Tahir N Khan, Hammad Yousaf, Cindy Skinner, Gail Maconachie, Moira Crosier, Holli Horak and 29 more

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In one paragraph

Article in Annals of neurology, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.

0numbers the graph read from it
0cells of the map it votes in
5citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

5 citing papers in PubMed.

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4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

39 authors.

Arkaprava Roychaudhury *Department of Biology, Chungnam National University, Daejeon, South Korea.ORCID 0000-0003-1497-4909
Yu-Ri Lee *Department of Biology, Chungnam National University, Daejeon, South Korea.
Tae-Ik Choi *Department of Biology, Chungnam National University, Daejeon, South Korea.
Mervyn G Thomas *The University of Leicester Ulverscroft Eye Unit, Department of Neuroscience, Psychology and Behavior, University of Leicester, Leicester, UK.
Tahir N KhanStanley Manne Children's Research Institute, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, USA.
Hammad YousafStanley Manne Children's Research Institute, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, USA.
Cindy SkinnerGreenwood Genetic Center, Greenwood, SC, USA.
Gail MaconachieThe University of Leicester Ulverscroft Eye Unit, Department of Neuroscience, Psychology and Behavior, University of Leicester, Leicester, UK.
Moira CrosierHuman Developmental Biology Resource, Biosciences Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK.
Holli HorakDepartment of Neurology, University of Arizona, Tucson, AZ, USA.
Cris S ConstantinescuAcademic Unit of Mental Health and Clinical Neuroscience, University of Nottingham, Nottingham, UK.
Tae-Yoon KimDepartment of Biology, Chungnam National University, Daejeon, South Korea.
Kang-Han LeeDepartment of Biology, Chungnam National University, Daejeon, South Korea.
Jae-Jun KyungDepartment of Biology, Chungnam National University, Daejeon, South Korea.
Tao WangMcKusick-Nathans Department of Genetic Medicine, Johns Hopkins University, Baltimore, MD, USA.
Bonsu KuDisease Target Structure Research Center, Korea Research Institute of Bioscience and Biotechnology, Daejeon, South Korea.
Bernard N ChodirkerDepartment of Pediatrics and Child Health, Max Rady College of Medicine, Rady Faculty of Health Sciences, University of Manitoba, Winnipeg, MB, Canada.
Michael F HammerBIO5 Institute, University of Arizona, Tucson, AZ, USA.
Irene GottlobThe University of Leicester Ulverscroft Eye Unit, Department of Neuroscience, Psychology and Behavior, University of Leicester, Leicester, UK.
William H J NortonDepartment of Genetics and Genome Biology, University of Leicester, Leicester, UK.
Robert GerlaiDepartment of Psychology, University of Toronto Mississauga, Mississauga, ON, Canada.
Hyung-Goo KimNeurological Disorders Research Center, Qatar Biomedical Research Institute, Hamad Bin Khalifa University, Doha, Qatar.
Claudio GrazianoMedical Genetics Unit, AUSL Romagna, Cesena, Italy.
Tommaso PippucciIRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy.
Emanuela IovinoIRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy.
Francesca MontanariIRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy.
Giulia SeveriIRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy.
Camilo ToroNIH Undiagnosed Diseases Program, NIH Office of Rare Diseases Research and NHGRI, Bethesda, MD, USA.
Cornelius F BoerkoelNIH Undiagnosed Diseases Program, NIH Office of Rare Diseases Research and NHGRI, Bethesda, MD, USA.ORCID 0000-0003-3097-241X
Hyo Sun ChaDepartment of Biological Sciences, Sungkyunkwan University, Suwon, South Korea.
Cheol Yong ChoiDepartment of Biological Sciences, Sungkyunkwan University, Suwon, South Korea.
Sungjin KimDepartment of Microbiology & Molecular Biology, Chungnam National University, Daejeon, South Korea.
Je-Hyun YoonDepartment of Oncology Science, University of Oklahoma, Oklahoma City, OK, USA.
Kelly GilmoreDivision of Maternal Fetal Medicine, Department of Ob/Gyn, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.
Neeta L VoraDivision of Maternal Fetal Medicine, Department of Ob/Gyn, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.
Erica E DavisStanley Manne Children's Research Institute, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, USA.
Albert E ChudleyDepartment of Pediatrics and Child Health, Max Rady College of Medicine, Rady Faculty of Health Sciences, University of Manitoba, Winnipeg, MB, Canada.
Charles E SchwartzGreenwood Genetic Center, Greenwood, SC, USA.
Cheol-Hee KimDepartment of Biology, Chungnam National University, Daejeon, South Korea.ORCID 0000-0002-3019-0699

Funding

Functional Dissection of CNVs in Neurodevelopmental TraitsR01MH106826 · NIMH · LURIE CHILDREN'S HOSPITAL OF CHICAGO · PI DAVIS, ERICA ELLEN · 2015 to 2025
$4.6M
Unmet Needs: Achieving Equity and Support for Parents Pursuing Prenatal Diagnosis in the Genomic EraR01HD105868 · NICHD · UNIV OF NORTH CAROLINA CHAPEL HILL · PI VORA, NEETA L · 2021 to 2025
$3.4M
Identification of Novel X-linked Intellectual Disability GenesR01NS073854 · NINDS · GREENWOOD GENETIC CENTER · PI SCHWARTZ, CHARLES E, WANG, TAO · 2011 to 2013
$1.4M
Ministero Italiano della Salute, Programma di Ricerca Finalizzata 2018 RF-2018- 12366314Ministry of Oceans and Fisheries 20220027National Institute for Health Research CL-2017-11-003National Institute of Child Health and Development (NICHD) R01HD105868National Institute of Mental Health (NIMH) R01MH106826National Research Foundation of Korea 2020R1A5A8017671National Research Foundation of Korea RS-2024-00349650Natural Sciences and Engineering Research Council of Canada 311637NICHD NIH HHS R01 HD105868NIMH NIH HHS R01 MH106826NINDS NIH HHS R01 NS073854NINDS NIH HHS R01NS073854The South Carolina Department of Disabilities and Special Needs 2015-45
6 · The paper itself

Abstract

objectiveIntellectual disability is often the outcome of neurodevelopmental disorders and is characterized by significant impairments in intellectual and adaptive functioning. X-linked intellectual disability (XLID) is a subset of these disorders caused by genetic defects on the X chromosome, affecting about 2 out of 1,000 males. In syndromic form, it leads to a broad range of cognitive, behavioral, ocular, and physical disabilities.

methodsEmploying exome or genome sequencing, here we identified 4 missense variants (c.475C > G; p.H159D, c.1373C > A; p.T458N, and c.1585G > A; p.E529K, c.953C > T; p.S318L) and a putative truncating variant (c.1413_1414del; p.Y471*) in the SRPK3 gene in 9 XLID patients from 5 unrelated families. To validate SRPK3 as a novel XLID gene, we established a knockout (KO) model of the SRPK3 orthologue in zebrafish.

resultsThe 8 patients ascertained postnatally shared common clinical features including intellectual disability, agenesis of the corpus callosum, abnormal eye movement, and ataxia. A ninth case, ascertained prenatally, had a complex structural brain phenotype. Together, these data indicate a pathological role of SRPK3 in neurodevelopmental disorders. In post-fertilization day 5 larvae (free swimming stage), KO zebrafish exhibited severe deficits in eye movement and swim bladder inflation, mimicking uncontrolled ocular movement and physical clumsiness observed in human patients. In adult KO zebrafish, cerebellar agenesis and behavioral abnormalities were observed, recapitulating human phenotypes of cerebellar atrophy and intellectual disability.

interpretationOverall, these results suggest a crucial role of SRPK3 in the pathogenesis of syndromic X-linked intellectual disability and provide new insights into brain development, cognitive and ocular dysfunction in both humans and zebrafish. ANN NEUROL 2024;96:914-931.

Indexed as

Protein Serine-Threonine KinasesZebrafishAdolescentAdultAnimalsChildChild, PreschoolCognitionEyeFemaleHumansIntellectual DisabilityMaleX-Linked Intellectual DisabilityProtein Serine-Threonine Kinases

Identifiers

PMID39073169
PMCPMC11496011

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