NM_001032383.1(PQBP1):c.334_354del21 (p.Gly113_Arg119del) AND Renpenning syndrome 1

Clinical significance:Pathogenic (Last evaluated: Apr 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:
RCV000011731.3

Allele description [Variation Report for NM_001032383.1(PQBP1):c.334_354del21 (p.Gly113_Arg119del)]

NM_001032383.1(PQBP1):c.334_354del21 (p.Gly113_Arg119del)

Gene:
PQBP1:polyglutamine binding protein 1 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
Xp11.23
Genomic location:
Preferred name:
NM_001032383.1(PQBP1):c.334_354del21 (p.Gly113_Arg119del)
HGVS:
  • NC_000023.11:g.48902274_48902294del21
  • NG_015967.1:g.9357_9377del21
  • NM_001032383.1:c.334_354del21
  • NM_001167992.1:c.202-168_202-148del21
  • NM_005710.2:c.334_354del21
  • NP_001027555.1:p.Gly113_Arg119del
  • NP_005701.1:p.Gly113_Arg119del
  • NC_000023.10:g.48759551_48759571del21
Note:
NCBI staff reviewed the sequence information reported in PubMed 16493439 Fig. 2 to determine the location of this allele on the current reference sequence.
Links:
OMIM: 300463.0006; dbSNP: 606231198
NCBI 1000 Genomes Browser:
rs606231198
Molecular consequence:
  • NM_005710.2:c.334_354del21 - inframe_variant - [Sequence Ontology: SO:0001650]
  • NM_001167992.1:c.202-168_202-148del21 - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Renpenning syndrome 1 (RENS1)
Synonyms:
MENTAL RETARDATION, X-LINKED 55; GOLABI-ITO-HALL SYNDROME; RENPENNING SYNDROME
Identifiers:
MedGen: C0796135; Orphanet: 3242; OMIM: 309500

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000031963OMIMno assertion criteria providedPathogenic
(Apr 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

Exonic microdeletions in the X-linked PQBP1 gene in mentally retarded patients: a pathogenic mutation and in-frame deletions of uncertain effect.

Cossée M, Demeer B, Blanchet P, Echenne B, Singh D, Hagens O, Antin M, Finck S, Vallee L, Dollfus H, Hegde S, Springell K, Thelma BK, Woods G, Kalscheuer V, Mandel JL.

Eur J Hum Genet. 2006 Apr;14(4):418-25.

PubMed [citation]
PMID:
16493439

Details of each submission

From OMIM, SCV000031963.1

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

Description

In 3 unrelated boys with X-linked mental retardation (309500), Cossee et al. (2006) identified a 21-bp in-frame deletion encompassing nucleotides 334 to 354 in exon 4 of the PQBP1 gene. Two of the boys had mild mental retardation and mostly behavioral abnormalities without microcephaly or short stature. The third boy had severe global developmental delay and borderline short stature without microcephaly. The 21-bp deletion affects a region of 5 imperfect 7-amino acid tandem repeats in the PRD domain of the protein, present in the predominant isoform. The deletion may not affect some of the rarer isoforms, and may not have drastic functional effects, which may underlie the milder phenotype in these patients.

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

Last Updated: Sep 27, 2017