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The inherited bone marrow failure syndrome dyskeratosis congenita (DC) is most frequently caused by mutations in DKC1 (MIM# 300126), the gene encoding NAP57 (aka dyskerin). The typically missense mutations modulate… Click to show full abstract
The inherited bone marrow failure syndrome dyskeratosis congenita (DC) is most frequently caused by mutations in DKC1 (MIM# 300126), the gene encoding NAP57 (aka dyskerin). The typically missense mutations modulate the interaction of NAP57 with its chaperone SHQ1, but no DC mutations have been identified in SHQ1 (MIM# 613663). Here, we report on two compound heterozygous mutations in SHQ1 in a patient with a severe neurological disorder including cerebellar degeneration.
Keywords:
dyskeratosis congenita;
dyskerin;
interaction nap57;
shq1 mutations
Journal Title: Molecular Genetics & Genomic Medicine
Year Published: 2017
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Journal Title: Molecular Genetics & Genomic Medicine
Year Published: 2017
Link to full text (if available)
Share on Social Media: Sign Up to like & get
recommendations!