SSPO

On this page, you will find information about genetic changes that were identified in UDN participants. We are trying to find others with the same or similar condition.

Sharing information on this website is not a requirement of UDN participation. Only descriptions about participants who give explicit consent will appear here.

Date of Report

May 21, 2018

Full Name

SCO-spondin

Location
Chromosome 7 (7q36.1)


Function

The SSPO gene codes for a protein involved in the developing central nervous system (Gobron et al., 2000).

Database Links

GeneCards: GC07P149777

NCBI Gene: 23145

OMIM: 617356

UniProtKB/Swiss-Prot: A2VEC9

Clinical Significance

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).

Gene SSPO
Inheritance Pattern Autosomal recessive
Position see gene page
Transcript see gene page
DNA Change see gene page
Protein Change see gene page
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