Evidence map›Paper›PMID 38863195›Full record

ArticleClinical genetics2024

Non-syndromic retinal dystrophy associated with biallelic variation of SUMF1 and reduced leukocyte sulfatase activity.

Siying Lin, Anthony G Robson, Dorothy A Thompson, Karolina M Stepien, Robin Lachmann, Emma Footitt, Ola Czyz, Shwetha Chandrasekhar, Elena Schiff, Christos Iosifidis and 5 more

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PubMed Full text at PMC Publisher
In one paragraph

Article in Clinical genetics, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing 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

2 citing papers in PubMed.

  1. Article
  2. Review
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

15 authors.

Siying LinNIHR Biomedical Research Centre, Moorfields Eye Hospital and the UCL Institute of Ophthalmology, London, UK.
Anthony G RobsonNIHR Biomedical Research Centre, Moorfields Eye Hospital and the UCL Institute of Ophthalmology, London, UK.
Dorothy A ThompsonTony Kriss Visual Electrophysiology Unit, Department of Clinical and Academic Department of Ophthalmology, Sight and Sound Centre, Great Ormond Street Hospital for Children, London, UK.
Karolina M StepienAdult Inherited Metabolic Disorders, Salford Royal Organisation, Northern Care Alliance NHS Foundation Trust, London, UK.
Robin LachmannCharles Dent Metabolic Unit, National Hospital for Neurology and Neurosurgery, London, UK.
Emma FootittDepartment of Metabolic Paediatrics, Great Ormond Street Hospital, London, UK.
Ola CzyzDepartment of Metabolic Paediatrics, Great Ormond Street Hospital, London, UK.
Shwetha ChandrasekharUCL Institute of Ophthalmology, University College London, London, UK.
Elena SchiffNIHR Biomedical Research Centre, Moorfields Eye Hospital and the UCL Institute of Ophthalmology, London, UK.
Christos IosifidisManchester Royal Eye Hospital, Manchester University NHS Foundation Trust, Manchester, UK.
Graeme C BlackManchester Royal Eye Hospital, Manchester University NHS Foundation Trust, Manchester, UK.
Michel MichaelidesNIHR Biomedical Research Centre, Moorfields Eye Hospital and the UCL Institute of Ophthalmology, London, UK.
Omar A MahrooNIHR Biomedical Research Centre, Moorfields Eye Hospital and the UCL Institute of Ophthalmology, London, UK.
Gavin ArnoNIHR Biomedical Research Centre, Moorfields Eye Hospital and the UCL Institute of Ophthalmology, London, UK.ORCID 0000-0002-6165-7888
Andrew R WebsterNIHR Biomedical Research Centre, Moorfields Eye Hospital and the UCL Institute of Ophthalmology, London, UK.

Funding

Fight for Sight UK 5045/46National Institute for Health Research Biomedical Research Centre at Moorfields Eye Hospital NHS Foundation Trust and UCL Institute of Ophthalmology NIHR203322Wellcome Trust 205174/Z/16/ZWellcome Trust 206619Wellcome Trust 206619/Z/17/Z
6 · The paper itself

Abstract

Biallelic variants in SUMF1 are associated with multiple sulfatase deficiency (MSD), a rare lysosomal storage disorder typically diagnosed in early infancy or childhood, marked by severe neurodegeneration and early mortality. We present clinical and molecular characterisation of three unrelated patients aged 13 to 58 years with milder clinical manifestations due to SUMF1 disease variants, including two adult patients presenting with apparent non-syndromic retinal dystrophy. Whole genome sequencing identified biallelic SUMF1 variants in all three patients; Patient 1 homozygous for a complex allele c.[290G>T;293T>A]; p.[(Gly97Val);(Val98Glu)], Patient 2 homozygous for c.866A>G; p.(Tyr289Cys), and Patient 3 compound heterozygous for c.726-1G>C and p.(Tyr289Cys). Electroretinography indicated a rod-cone dystrophy with additional possible inner retinal dysfunction in all three patients. Biochemical studies confirmed reduced, but not absent, sulfatase enzyme activity in the absence of extra-ocular disease (Patient 1) or only mild systemic disease (Patients 2, 3). These cases are suggestive that non-null SUMF1 genotypes can cause an attenuated clinical phenotype, including retinal dystrophy without systemic complications, in adulthood.

Indexed as

AllelesRetinal DystrophiesSulfatasesAdolescentAdultFemaleGenotypeHumansLeukocytesMaleMiddle AgedMultiple Sulfatase Deficiency DiseaseMutationOxidoreductases Acting on Sulfur Group DonorsPhenotypeWhole Genome SequencingOxidoreductases Acting on Sulfur Group DonorsSulfatasesSUMF1 protein, humanlysosomal storage disorderMSDmultiple sulfatase deficiencyretinal dystrophiesSUMF1

Identifiers

PMID38863195
PMCPMC7616411

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.