A Case of Mucopolysaccharidosis II Caused by a Novel Variant with Skin Linear Hyperpigmented Streaks along Blaschko’s Lines-Reference-Cited by-同舟云学术

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

Published:2023-03-15 Issue:6 Volume:24 Page:5647
ISSN:1422-0067
Container-title:International Journal of Molecular Sciences
language:en
Short-container-title:IJMS

Author:

Sofronova Viktoriia¹²^ORCID,Gurinova Elizaveta³,Petukhova Diana²,Fukamatsu Hiroko⁴^ORCID,Yamamoto Takenobu⁴^ORCID,Aoyama Yumi⁴^ORCID,Golikova Polina²³,Moskvitin Gavril²³,Ivanova Roza²³,Savvina Mira²^ORCID,Vasilev Filipp²^ORCID,Moriwaki Takahito¹,Terawaki Seigo¹^ORCID,Sukhomyasova Aitalina²³,Maksimova Nadezhda²^ORCID,Otomo Takanobu¹^ORCID

Affiliation:

1. Department of Molecular and Genetic Medicine, Kawasaki Medical School, Kurashiki 701-0192, Japan

2. Laboratory of Molecular Medicine and Human Genetics, North-Eastern Federal University, 677013 Yakutsk, Russia

3. Medical Genetics Center, Republic Hospital No. 1—National Center of Medicine, 677019 Yakutsk, Russia

4. Department of Dermatology, Kawasaki Medical School, Kurashiki 701-0192, Japan

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 IDS gene, which was confirmed in the mother with a heterozygous state. His brownish skin lesions differed from the Mongolian blue spots or “pebbling” of the skin that are observed in MPS II.

Funder

JSPS KAKENHI

Japanese Government (Monbukagakusho: MEXT) Scholarship and by the Ministry Education and Science of Russian Federation

Publisher

MDPI AG

Subject

Inorganic Chemistry,Organic Chemistry,Physical and Theoretical Chemistry,Computer Science Applications,Spectroscopy,Molecular Biology,General Medicine,Catalysis

Link

https://www.mdpi.com/1422-0067/24/6/5647/pdf

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