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A loss of function mutation in SLC9A6 (Xq26.3) is responsible for Christianson syndrome in males. We identified a novel splicing mutation (NM_006359.2:c.1141-8C>A) of SLC9A6 in a seven-year-old boy with microcephaly,… Click to show full abstract
A loss of function mutation in SLC9A6 (Xq26.3) is responsible for Christianson syndrome in males. We identified a novel splicing mutation (NM_006359.2:c.1141-8C>A) of SLC9A6 in a seven-year-old boy with microcephaly, severe developmental delay, and intractable epilepsy. Functional analysis found multiple aberrant transcripts, none of which maintained the canonical open reading frame. Computer prediction tools, however, failed to detect all of the aberrant transcripts.
Keywords:
slc9a6;
mutation slc9a6;
novel splicing;
christianson syndrome;
splicing mutation;
mutation
Journal Title: Human Genome Variation
Year Published: 2019
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Journal Title: Human Genome Variation
Year Published: 2019
Link to full text (if available)
Share on Social Media: Sign Up to like & get
recommendations!