Academic Journal
Multiple Sulfatase Deficiency: A Case Series With a Novel Mutation
| العنوان: | Multiple Sulfatase Deficiency: A Case Series With a Novel Mutation |
|---|---|
| المؤلفون: | Hijazi, Leen, Kashgari, Amna, Alfadhel, Majid |
| المصدر: | Journal of Child Neurology ; volume 33, issue 13, page 820-824 ; ISSN 0883-0738 1708-8283 |
| بيانات النشر: | SAGE Publications |
| سنة النشر: | 2018 |
| الوصف: | Multiple sulfatase deficiency is an autosomal recessive lysosomal storage disorder due to a deficiency in formylglycine-generating enzyme, which is encoded by the Sulfatase Modifying Factor 1 ( SUMF1) gene. Clinically, the disorder is variable. The most common characteristics are developmental regression, intellectual disability, ichthyosis, and periventricular white matter disease. Herein, we report 6 Saudi patients with multiple sulfatase deficiency caused by a novel homozygous missense mutation in the SUMF1 gene (NM_182760.3; c.785A>G [p.Gln262Arg]). The patients are 2 females and 4 males between 5 and 13 years of age, with an age of onset of 1 to 3 years. All patients are consanguineous and suffer from developmental regression, intellectual disability, ichthyosis, and periventricular white matter disease. This cohort differs from previous cohorts because of the absence of organomegaly and skeletal abnormalities. |
| نوع الوثيقة: | article in journal/newspaper |
| اللغة: | English |
| DOI: | 10.1177/0883073818790851 |
| الاتاحة: | https://doi.org/10.1177/0883073818790851 https://journals.sagepub.com/doi/pdf/10.1177/0883073818790851 https://journals.sagepub.com/doi/full-xml/10.1177/0883073818790851 |
| Rights: | https://journals.sagepub.com/page/policies/text-and-data-mining-license |
| رقم الانضمام: | edsbas.1F6DBBEE |
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