NM_004260.3(RECQL4):c.1650_1656delGGCCTGC (p.Ala551Tyrfs) AND Rothmund-Thomson syndrome

Clinical significance:Pathogenic (Last evaluated: May 1, 1999)

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:
RCV000006434.3

Allele description [Variation Report for NM_004260.3(RECQL4):c.1650_1656delGGCCTGC (p.Ala551Tyrfs)]

NM_004260.3(RECQL4):c.1650_1656delGGCCTGC (p.Ala551Tyrfs)

Gene:
RECQL4:RecQ like helicase 4 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
8q24.3
Genomic location:
Preferred name:
NM_004260.3(RECQL4):c.1650_1656delGGCCTGC (p.Ala551Tyrfs)
HGVS:
  • NC_000008.11:g.144514490_144514496delGCAGGCC
  • NG_016430.1:g.8331_8337delGGCCTGC
  • NM_004260.3:c.1650_1656delGGCCTGC
  • NP_004251.3:p.Ala551Tyrfs
  • NC_000008.10:g.145739874_145739880delGCAGGCC
Links:
OMIM: 603780.0001; dbSNP: 786200887
NCBI 1000 Genomes Browser:
rs786200887
Molecular consequence:
  • NM_004260.3:c.1650_1656delGGCCTGC - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Rothmund-Thomson syndrome (RTS)
Identifiers:
MedGen: C0032339; Orphanet: 2909; OMIM: 268400

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000026617OMIMno assertion criteria providedPathogenic
(May 1, 1999)
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

Mutations in RECQL4 cause a subset of cases of Rothmund-Thomson syndrome.

Kitao S, Shimamoto A, Goto M, Miller RW, Smithson WA, Lindor NM, Furuichi Y.

Nat Genet. 1999 May;22(1):82-4.

PubMed [citation]
PMID:
10319867

Details of each submission

From OMIM, SCV000026617.2

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

Description

Kitao et al. (1999) found that a brother and sister in a family of Mexican ancestry with Rothmund-Thomson syndrome (RTS; 268400) had the same compound heterozygous mutations. One mutation, referred to as mut-1, was a deletion of 7 bases (GGCCTGC; nucleotides 1650-1656) resulting in an early termination codon (TGA) 14 bases downstream. This mutation was transmitted from the mother of the patients. The second mutation, mut-2, was inherited from the father: a 2269C-T transition resulting in a gln757-to-ter substitution (Q757X; 603780.0002). Both mutations occurred in the helicase domain of RECQL4 and predicted truncated proteins of 60 kD and 82 kD, compared with the intact 133-kD RECQL4 helicase.

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

Last Updated: Mar 30, 2018