SRD5A3, 1-BP DUP, 203C

SRD5A3, 1-BP DUP, 203C

Variant type:
Duplication
Cytogenetic location:
4q12
Other names:
  • 1-BP DUP, 203C
Links:
OMIM: 611715.0006

Clinical significance

SRD5A3, 1-BP DUP, 203C

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)
See supporting ClinVar records

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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
(Jan 6, 2012)
classified by single submitter
(literature only)
literature onlygermlinePubMed (2)
OMIM
(Jan 6, 2012)
SCV000045208

Summary

FamiliesIndividualsSegregationAllele originEthnicityGeographic origin
not providednot providednot providedgermlinenot providednot provided

OMIM

Data published from literature

FamiliesIndividualsSegregationsAllele originCitations
not providednot providednot providedgermline

Description

In 3 sibs, born of consanguineous Iranian parents, with Kahrizi syndrome (612713) (Kahrizi et al., 2009), Kahrizi et al. (2011) identified a homozygous 1-bp duplication (203dupC) in exon 1 of the SRD5A3 gene, resulting in a frameshift and premature truncation. Each unaffected parent and 2 unaffected sibs were heterozygous for the mutation, which was not found in 366 control chromosomes. RT-PCR analysis showed missing or reduced expression of the SRD5A3 gene in patient lymphoblastoid cells. The phenotype was characterized by mental retardation, cataracts, coloboma, and kyphosis. However, biochemical studies showed no clear abnormal transferrin mobility in routine testing for CDG. The mutation was identified by array-based exon enrichment and next-generation sequencing.

Last Updated: Jun 28, 2014

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