Evidence map›Paper›PMID 36982718›Full record

ArticleInternational journal of molecular sciences2023

A Case of Mucopolysaccharidosis II Caused by a Novel Variant with Skin Linear Hyperpigmented Streaks along Blaschko's Lines.

Viktoriia Sofronova, Elizaveta Gurinova, Diana Petukhova, Hiroko Fukamatsu, Takenobu Yamamoto, Yumi Aoyama, Polina Golikova, Gavril Moskvitin, Roza Ivanova, Mira Savvina and 6 more

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In one paragraph

Article in International journal of molecular sciences, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
–field-weighted citation impact, top 96% of its field
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

0 citing papers in PubMed, 0 citations in OpenAlex.

No citing paper in PubMed yet.

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

16 authors at 2 institutions in 2 countries.

Viktoriia SofronovaDepartment of Molecular and Genetic Medicine, Kawasaki Medical School, Kurashiki 701-0192, Japan.ORCID 0000-0002-9029-1694
Elizaveta GurinovaMedical Genetics Center, Republic Hospital No. 1-National Center of Medicine, 677019 Yakutsk, Russia.
Diana PetukhovaLaboratory of Molecular Medicine and Human Genetics, North-Eastern Federal University, 677013 Yakutsk, Russia.
Hiroko FukamatsuDepartment of Dermatology, Kawasaki Medical School, Kurashiki 701-0192, Japan.ORCID 0000-0003-3446-1211
Takenobu YamamotoDepartment of Dermatology, Kawasaki Medical School, Kurashiki 701-0192, Japan.ORCID 0000-0002-7154-7033
Yumi AoyamaDepartment of Dermatology, Kawasaki Medical School, Kurashiki 701-0192, Japan.ORCID 0000-0003-3701-5575
Polina GolikovaLaboratory of Molecular Medicine and Human Genetics, North-Eastern Federal University, 677013 Yakutsk, Russia.
Gavril MoskvitinLaboratory of Molecular Medicine and Human Genetics, North-Eastern Federal University, 677013 Yakutsk, Russia.
Roza IvanovaLaboratory of Molecular Medicine and Human Genetics, North-Eastern Federal University, 677013 Yakutsk, Russia.
Mira SavvinaLaboratory of Molecular Medicine and Human Genetics, North-Eastern Federal University, 677013 Yakutsk, Russia.ORCID 0000-0002-6040-4117
Filipp VasilevLaboratory of Molecular Medicine and Human Genetics, North-Eastern Federal University, 677013 Yakutsk, Russia.ORCID 0000-0002-0315-852X
Takahito MoriwakiDepartment of Molecular and Genetic Medicine, Kawasaki Medical School, Kurashiki 701-0192, Japan.
Seigo TerawakiDepartment of Molecular and Genetic Medicine, Kawasaki Medical School, Kurashiki 701-0192, Japan.ORCID 0000-0001-6019-1628
Aitalina SukhomyasovaLaboratory of Molecular Medicine and Human Genetics, North-Eastern Federal University, 677013 Yakutsk, Russia.
Nadezhda MaksimovaLaboratory of Molecular Medicine and Human Genetics, North-Eastern Federal University, 677013 Yakutsk, Russia.ORCID 0000-0002-8258-7452
Takanobu OtomoDepartment of Molecular and Genetic Medicine, Kawasaki Medical School, Kurashiki 701-0192, Japan.ORCID 0000-0001-8490-7299
North-Eastern Federal University · RUKawasaki Medical School · JP

Funding

Japan Society for the Promotion of Science JP22H03046
6 · The paper itself

Abstract

We report a case of an eight-year-old boy with mucopolysaccharidosis (MPS) II with atypical skin lesions of hyperpigmented streaks along Blaschko's lines. This case presented with mild symptoms of MPS such as hepatosplenomegaly, joint stiffness, and quite mild bone deformity, which was the reason for the delay in diagnosis until the age of seven years. However, he showed an intellectual disability that did not meet the diagnostic criteria for an attenuated form of MPS II. Iduronate 2-sulfatase activity was reduced. Clinical exome sequencing of DNA from peripheral blood revealed a novel pathogenic missense variant (NM_000202.8(IDS_v001):c.703C>A, p.(Pro235Thr)) in the

Indexed as

Iduronate SulfataseMucopolysaccharidosis IIChildHumansMaleMutation, MissenseSkinSplenomegalyIduronate SulfataseBlaschko’s lineHunter syndromemucopolysaccharidosis IIskin pigmentation

Identifiers

PMID36982718
PMCPMC10057584
OpenAlexW4327600719

What OpenQuestion holds

Textmetadata
LicenceCC BY
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Registered trials

None linked

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.