Identification of a syndrome comprising microcephaly and intellectual disability but not white matter disease associated with a homozygous c.676C>T p.R226WDEAF1mutation

2016 ◽  
Vol 170 (5) ◽  
pp. 1330-1332 ◽  
Author(s):  
Christian Gund ◽  
Zöe Powis ◽  
Wendy Alcaraz ◽  
Sonal Desai ◽  
Kristin Baranano
Keyword(s):  
Intellectual Disability ◽  
White Matter ◽  
White Matter Disease

Multiple Sulfatase Deficiency: A Case Series With a Novel Mutation

2018 ◽  
Vol 33 (13) ◽  
pp. 820-824 ◽  
Author(s):  
Leen Hijazi ◽  
Amna Kashgari ◽  
Majid Alfadhel
Keyword(s):  
Intellectual Disability ◽  
White Matter ◽  
Age Of Onset ◽  
Novel Mutation ◽  
Case Series ◽  
Periventricular White Matter ◽  
White Matter Disease ◽  
Lysosomal Storage ◽  
Multiple Sulfatase Deficiency ◽  
Developmental Regression

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.

Novel homozygousDEAF1variant suspected in causing white matter disease, intellectual disability, and microcephaly

2014 ◽  
Vol 164 (6) ◽  
pp. 1565-1570 ◽  
Author(s):  
Eissa A. Faqeih ◽  
Mohammed Al-Owain ◽  
Dilek Colak ◽  
Rosan Kenana ◽  
Yusra Al-Yafee ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
White Matter ◽  
White Matter Disease

Progressive white matter disease in Sjögren’s syndrome

Rheumatology ◽  
2020 ◽  
Author(s):  
Yung-Wen Cheng ◽  
Hsiang-Cheng Chen ◽  
Sin-Yi Lyu ◽  
Yao-Feng Li ◽  
Chun-Chi Lu
Keyword(s):  
White Matter ◽  
Sjögren’S Syndrome ◽  
Sjögren's Syndrome ◽  
Sjogren’S Syndrome ◽  
Sjogren's Syndrome ◽  
White Matter Disease ◽  
Sjögren‘S Syndrome

White Matter Disease and Dementia

1996 ◽  
Vol 31 (2) ◽  
pp. 250-268 ◽  
Author(s):  
Stephen M. Rao
Keyword(s):  
White Matter ◽  
White Matter Disease

Ischemic white matter disease (Binswanger's disease)

2016 ◽  
pp. 13-14
Author(s):  
Saltanat Kamenova ◽  
Aida Kondybayeva ◽  
Assiya Akanova
Keyword(s):  
White Matter ◽  
White Matter Disease ◽  
Binswanger’S Disease ◽  
Binswanger's Disease
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