NM_005055.4(RAPSN):c.416T>C (p.Phe139Ser) AND Pena-Shokeir syndrome type I

Clinical significance:Pathogenic (Last evaluated: Apr 6, 2015)

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:
RCV000008524.2

Allele description [Variation Report for NM_005055.4(RAPSN):c.416T>C (p.Phe139Ser)]

NM_005055.4(RAPSN):c.416T>C (p.Phe139Ser)

Gene:
RAPSN:receptor-associated protein of the synapse [Gene - OMIM]
Variant type:
single nucleotide variant
Cytogenetic location:
11p11.2
Genomic location:
Preferred name:
NM_005055.4(RAPSN):c.416T>C (p.Phe139Ser)
HGVS:
  • NC_000011.10:g.47447927A>G
  • NG_008312.1:g.6252T>C
  • NM_005055.4:c.416T>C
  • NP_005046.2:p.Phe139Ser
  • NC_000011.9:g.47469479A>G
Protein change:
F139S; PHE139SER
Links:
OMIM: 601592.0013; dbSNP: 121909256
NCBI 1000 Genomes Browser:
rs121909256
Molecular consequence:
  • NM_005055.4:c.416T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Pena-Shokeir syndrome type I (FADS)
Synonyms:
Pena Shokeir syndrome, type 1; Lethal Pena-Shokeir 1 syndrome; Fetal akinesia sequence; See all synonyms [MedGen]
Identifiers:
MedGen: C1276035; Orphanet: 994; OMIM: 208150
Age of onset:
Neonatal/infancy

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000028732OMIMno assertion criteria providedPathogenic
(Apr 6, 2015)
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

Acetylcholine receptor pathway mutations explain various fetal akinesia deformation sequence disorders.

Michalk A, Stricker S, Becker J, Rupps R, Pantzar T, Miertus J, Botta G, Naretto VG, Janetzki C, Yaqoob N, Ott CE, Seelow D, Wieczorek D, Fiebig B, Wirth B, Hoopmann M, Walther M, K├Ârber F, Blankenburg M, Mundlos S, Heller R, Hoffmann K.

Am J Hum Genet. 2008 Feb;82(2):464-76. doi: 10.1016/j.ajhg.2007.11.006.

PubMed [citation]
PMID:
18252226
PMCID:
PMC2427255

Details of each submission

From OMIM, SCV000028732.2

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

Description

In a Pakistani family, Michalk et al. (2008) observed compound heterozygosity for 2 missense RAPSN mutations as the basis of fetal akinesia sequence (FADS; 208150) with severe contractures and respiratory and feeding abnormalities at birth. One allele carried a 416T-C transition in exon 2 resulting in a phe139-to-ser substitution (F139S); the other carried a 566C-T transition in exon 3 resulting in an ala189-to-val substitution (A189V). Both residues are conserved across species, indicating functional relevance.

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

Last Updated: Jun 29, 2015