NM_005199.4(CHRNG):c.301_309dupAGGGTGCCG (p.Pro103_Ser104insArgValPro) AND Multiple pterygium syndrome Escobar type

Clinical significance:Pathogenic (Last evaluated: Aug 1, 2006)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000020005.29

Allele description [Variation Report for NM_005199.4(CHRNG):c.301_309dupAGGGTGCCG (p.Pro103_Ser104insArgValPro)]

NM_005199.4(CHRNG):c.301_309dupAGGGTGCCG (p.Pro103_Ser104insArgValPro)

Gene:
CHRNG:cholinergic receptor nicotinic gamma subunit [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
2q37.1
Genomic location:
Preferred name:
NM_005199.4(CHRNG):c.301_309dupAGGGTGCCG (p.Pro103_Ser104insArgValPro)
HGVS:
  • NC_000002.12:g.232540662_232540670dupAGGGTGCCG
  • NG_012954.1:g.5936_5944dupAGGGTGCCG
  • NM_005199.4:c.301_309dupAGGGTGCCG
  • NP_005190.4:p.Pro103_Ser104insArgValPro
  • NC_000002.11:g.233405372_233405380dupAGGGTGCCG
Links:
OMIM: 100730.0003; dbSNP: 863223313
NCBI 1000 Genomes Browser:
rs863223313
Molecular consequence:
  • NM_005199.4:c.301_309dupAGGGTGCCG - inframe_variant - [Sequence Ontology: SO:0001650]

Condition(s)

Name:
Multiple pterygium syndrome Escobar type (EVMPS)
Synonyms:
MULTIPLE PTERYGIUM SYNDROME, ESCOBAR VARIANT
Identifiers:
MedGen: C0265261; Orphanet: 2990; OMIM: 265000
Age of onset:
Infancy

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000040303OMIMno assertion criteria providedPathogenic
(Aug 1, 2006)
germlineliterature only

PubMed (1)
[See all records that cite this PMID]

Summary from all submissions

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

Citations

PubMed

Escobar syndrome is a prenatal myasthenia caused by disruption of the acetylcholine receptor fetal gamma subunit.

Hoffmann K, Muller JS, Stricker S, Megarbane A, Rajab A, Lindner TH, Cohen M, Chouery E, Adaimy L, Ghanem I, Delague V, Boltshauser E, Talim B, Horvath R, Robinson PN, Lochmüller H, Hübner C, Mundlos S.

Am J Hum Genet. 2006 Aug;79(2):303-12.

PubMed [citation]
PMID:
16826520
PMCID:
PMC1559482

Details of each submission

From OMIM, SCV000040303.3

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

Description

In 2 affected sibs in a nonconsanguineous family from Germany segregating Escobar syndrome (EVMPS; 265000), Hoffmann et al. (2006) identified compound heterozygosity for mutations in the CHRNG gene: a 9-bp duplication (300dup9) in exon 4, resulting in duplication of 3 amino acids (78dup3), and a 1408C-T transition, resulting in an arg448-to-ter (R448X; 100730.0004) substitution.

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

Last Updated: Dec 6, 2016