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Mutations in UNC80, Encoding Part of the UNC79-UNC80-NALCN Channel Complex, Cause Autosomal-Recessive Severe Infantile Encephalopathy  Hanan E. Shamseldin,

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Presentation on theme: "Mutations in UNC80, Encoding Part of the UNC79-UNC80-NALCN Channel Complex, Cause Autosomal-Recessive Severe Infantile Encephalopathy  Hanan E. Shamseldin,"— Presentation transcript:

1 Mutations in UNC80, Encoding Part of the UNC79-UNC80-NALCN Channel Complex, Cause Autosomal-Recessive Severe Infantile Encephalopathy  Hanan E. Shamseldin, Eissa Faqeih, Ali Alasmari, Maha S. Zaki, Joseph G. Gleeson, Fowzan S. Alkuraya  The American Journal of Human Genetics  Volume 98, Issue 1, Pages (January 2016) DOI: /j.ajhg Copyright © 2016 The American Society of Human Genetics Terms and Conditions

2 Figure 1 Characterization of Four Families with Severe Non-Epileptic Encephalopathy (A) Pedigrees of the four study families. (B1) Facial image of individual F1_IV:5 (6 years and 5 months), showing high forehead, prominent nasal bridge, and tented upper lip. (B2) Facial image of individual F2_IV:1 (2 years). (B3) Facial image of individual F2_IV:2 (11 months). (B4) Facial image of individual F3_IV4 (8 years and 9 months), showing similar facial appearance to the other affected individuals. Note the additional presence of microcephaly, plagiocephaly, and brachycephaly. (B5) Facial images of individual F4_V:1 and (B6) of individual F4_V:2, showing similar but milder facial features. (B7 and B8) Brain MRI of individual F1_IV:5, showing mild diffuse brain atrophy. The American Journal of Human Genetics  , DOI: ( /j.ajhg ) Copyright © 2016 The American Society of Human Genetics Terms and Conditions

3 Figure 2 Identification of UNC80 Mutations in Severe Non-Epileptic Encephalopathy (A) Genome-wide autozygosity mapping combining families 1, 2, and 3 reveals a single interval that is exclusively shared by the affected members and is demarcated by three navy bars (red arrow). (B) Linkage analysis shows a corresponding significant peak on chromosome 2. (C) Cartoon of UNC80 with the position of the two homozygous nonsense and one homozygous missense variants shown (in each chromatogram, the tracing of the affected individual is shown on top and that of the carrier parent is shown below with a red asterisk indicating the position of the variant). The American Journal of Human Genetics  , DOI: ( /j.ajhg ) Copyright © 2016 The American Society of Human Genetics Terms and Conditions

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