May 21, 2018
The SSPO gene codes for a protein involved in the developing central nervous system (Gobron et al., 2000).
Changes in this gene were identified in two UDN participants. Research is underway to see if these changes are causing symptoms in these participants.
Participant 064, a 10 year old male with arthrogryposis multiplex congenita causing decreased flexibility of his joints, low muscle tone (muscle hypotonia), and low bone density (osteopenia) was found to carry the following genetic changes in the SSPO gene: c.11481C>T/p.Ser3824Phe (position: chr7:149515081, transcript: NM_198455.2) and c.13684G>A/Arg4557Gln (position: chr7:149521591, transcript: NM_198455.2).
Participant 068, an 8 year old female with seizures, weekly episodes of confusion and hallucination, problems with coordination (ataxia), tremor, ulcerative colitis, pancreas inflammation (pancreatitis), and developmental delay was found to carry the following genetic changes in the SSPO gene: c.2933C>T/p.Arg977Cys (position: chr7:149482255, transcript: NM_198455.2) and c.6897G>A/p.Trp2298* (position: chr7:149494422, transcript: NM_198455.2).
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