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NM_018013.4(SOBP):c.1981C>T (p.Arg661Ter) AND Intellectual disability, anterior maxillary protrusion, and strabismus

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Nov 12, 2010
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000000003.4

Allele description [Variation Report for NM_018013.4(SOBP):c.1981C>T (p.Arg661Ter)]

NM_018013.4(SOBP):c.1981C>T (p.Arg661Ter)

Gene:
SOBP:sine oculis binding protein homolog [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
6q21
Genomic location:
Preferred name:
NM_018013.4(SOBP):c.1981C>T (p.Arg661Ter)
HGVS:
  • NC_000006.12:g.107634825C>T
  • NG_028200.2:g.149713C>T
  • NM_018013.4:c.1981C>TMANE SELECT
  • NP_060483.3:p.Arg661Ter
  • NC_000006.11:g.107956029C>T
  • NG_028200.1:g.149713C>T
Protein change:
R661*; ARG661TER
Links:
OMIM: 613667.0001; dbSNP: rs267607078
NCBI 1000 Genomes Browser:
rs267607078
Molecular consequence:
  • NM_018013.4:c.1981C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Intellectual disability, anterior maxillary protrusion, and strabismus (MRAMS)
Synonyms:
IMPAIRED INTELLECTUAL DEVELOPMENT, ANTERIOR MAXILLARY PROTRUSION, AND STRABISMUS
Identifiers:
MONDO: MONDO:0013353; MedGen: C3150924; OMIM: 613671

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000020146OMIM
no assertion criteria provided
Pathogenic
(Nov 12, 2010) 		germlineliterature only

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Autosomal recessive mental retardation syndrome with anterior maxillary protrusion and strabismus: MRAMS syndrome.

Basel-Vanagaite L, Rainshtein L, Inbar D, Gothelf D, Hennekam R, Straussberg R.

Am J Med Genet A. 2007 Aug 1;143A(15):1687-91.

PubMed [citation]
PMID:
17618476

SOBP is mutated in syndromic and nonsyndromic intellectual disability and is highly expressed in the brain limbic system.

Birk E, Har-Zahav A, Manzini CM, Pasmanik-Chor M, Kornreich L, Walsh CA, Noben-Trauth K, Albin A, Simon AJ, Colleaux L, Morad Y, Rainshtein L, Tischfield DJ, Wang P, Magal N, Maya I, Shoshani N, Rechavi G, Gothelf D, Maydan G, Shohat M, Basel-Vanagaite L.

Am J Hum Genet. 2010 Nov 12;87(5):694-700. doi: 10.1016/j.ajhg.2010.10.005. Epub 2010 Oct 28.

PubMed [citation]
PMID:
21035105
PMCID:
PMC2978971

Details of each submission

From OMIM, SCV000020146.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (2)

Description

In 7 affected sibs from a consanguineous Israeli Arab family with impaired intellectual development, anterior maxillary protrusion, and strabismus (MRAMS; 613671) reported by Basel-Vanagaite et al. (2007), Birk et al. (2010) identified a homozygous 1981C-T transition in exon 6 of the SOBP gene, resulting in an arg661-to-ter (R661X) substitution. The mutation was predicted to result in the truncation of 212 residues of the protein, which would cause elimination of the second proline-rich domain (PR2) as well as the C-terminal NLS and an RNA-binding region that may be important for the functioning of the protein. The mutation was not observed in 300 control chromosomes from Israeli Arab individuals. Birk et al. (2010) suggested that disruption of the SOBP gene in the limbic system during synaptogenesis resulted in abnormal cognition in these patients.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Aug 5, 2023