PQBP1, 4-BP DEL, 3896AGAG

PQBP1, 4-BP DEL, 3896AGAG

Variant type:
Deletion
Cytogenetic location:
Xp11.23
Other names:
  • 4-BP DEL, 3896AGAG
Links:
OMIM: 300463.0002

Clinical significance

PQBP1, 4-BP DEL, 3896AGAG

Clinical significance:
Pathogenic/Likely pathogenic
Review status:
(1/4)1 star out of maximum of 4 stars
classified by single submitter
Number of submission(s):
1
Condition(s)
  • Renpenning syndrome
See supporting ClinVar records

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Recent Activity

Assertion and evidence details

Germline

Clinical significance
(Last evaluated)
Review status
(Assertion method)
Collection methodCondition(s)
(Mode of inheritance)
OriginCitationsSubmitter
(Last submitted)
Submission accession
Pathogenic
(Apr 4, 2011)
classified by single submitter
(literature only)
literature only
  • Renpenning syndrome
germlinePubMed (6)
OMIM
(Dec 30, 2010)
SCV000031959

Summary

FamiliesIndividualsSegregationAllele originEthnicityGeographic origin
not providednot providednot providedgermlinenot providednot provided

OMIM

Data published from literature

FamiliesIndividualsSegregationsAllele originCitations
not providednot providednot providedgermline

Description

In a family (K8600) with Renpenning syndrome, Stevenson et al. (2005) identified a 4-bp deletion in exon 4 of the PQBP1 gene, which they stated was identical to that previously identified by Kalscheuer et al. (2003) in the MRX55 family, although Stevenson et al. (2005) denoted the mutation as 459-462delAGAG. The deletion causes a frameshift and a premature stop codon, resulting in a protein that partially lacks the PRD domain and completely lacks the NLS and C2 domains. The deletion was found in all affected males and obligate carriers.
In affected males of 2 families with X-linked mental retardation (309500), Kalscheuer et al. (2003) identified a deletion of 2 AG dinucleotides at position 3896 of the PQBP1 gene. The mutant protein was predicted to differ by only 2 amino acids from the normal protein. Affected individuals from 1 family, which had been reported as MRX55 (see 309500) by Deqaqi et al. (1998), were moderately retarded but had no other clinical signs, except for a somewhat smaller body size in 1 individual. In contrast, all affected members of the second family, which had not been reported previously, had microcephaly in addition to mental retardation. One member also had anal atresia, and another had complete situs inversus. Kalscheuer et al. (2003) suggested that this clinical variability might be due to differences in the genetic background; the mildly affected family was from Morocco, while the other family was from the Netherlands. The disorder was not progressive in any of these families.
In affected members and obligate carriers of a family with MRXS3, previously described by Fichera et al. (2002), Fichera et al. (2005) identified the 3896delAGAG mutation in the PQBP1 gene. The authors observed skewed X inactivation in 8 of 9 heterozygous females in this family; the inactivated X chromosome was of maternal origin.

Last Updated: Jun 28, 2014

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