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NM_001042545.2(LTBP4):c.3464del (p.Gln1155fs) AND Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Nov 1, 2009
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000005726.5

Allele description [Variation Report for NM_001042545.2(LTBP4):c.3464del (p.Gln1155fs)]

NM_001042545.2(LTBP4):c.3464del (p.Gln1155fs)

Gene:
LTBP4:latent transforming growth factor beta binding protein 4 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
19q13.2
Genomic location:
Preferred name:
NM_001042545.2(LTBP4):c.3464del (p.Gln1155fs)
HGVS:
  • NC_000019.10:g.40622647del
  • NG_021201.1:g.34482del
  • NM_001042544.1:c.3665del
  • NM_001042545.2:c.3464delMANE SELECT
  • NM_003573.2:c.3554del
  • NP_001036009.1:p.Gln1222fs
  • NP_001036010.1:p.Gln1155fs
  • NP_003564.2:p.Gln1185fs
  • NC_000019.9:g.41128552del
Protein change:
Q1155fs
Links:
OMIM: 604710.0001; dbSNP: rs606231159
NCBI 1000 Genomes Browser:
rs606231159
Molecular consequence:
  • NM_001042544.1:c.3665del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001042545.2:c.3464del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_003573.2:c.3554del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
Synonyms:
URBAN-RIFKIN-DAVIS SYNDROME; Cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities; Cutis laxa, autosomal recessive, type IC
Identifiers:
MONDO: MONDO:0013170; MedGen: C2750804; Orphanet: 221145; OMIM: 613177

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000025908OMIM
no assertion criteria provided
Pathogenic
(Nov 1, 2009) 		germlineliterature only

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Mutations in LTBP4 cause a syndrome of impaired pulmonary, gastrointestinal, genitourinary, musculoskeletal, and dermal development.

Urban Z, Hucthagowder V, Schürmann N, Todorovic V, Zilberberg L, Choi J, Sens C, Brown CW, Clark RD, Holland KE, Marble M, Sakai LY, Dabovic B, Rifkin DB, Davis EC.

Am J Hum Genet. 2009 Nov;85(5):593-605. doi: 10.1016/j.ajhg.2009.09.013. Epub 2009 Oct 15.

PubMed [citation]
PMID:
19836010
PMCID:
PMC2775835

Details of each submission

From OMIM, SCV000025908.4

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

Description

In a patient with cutis laxa and severe pulmonary, gastrointestinal, and urinary abnormalities (ARCL1C; 613177), offspring of second-cousin Hispanic parents, Urban et al. (2009) identified homozygosity for a 3554delA mutation in exon 28 of the LTBP4 gene resulting in a frameshift and a truncated protein (Gln1185fsTer1211). The mutation occurred in an 8-cysteine domain.

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

Last Updated: Apr 23, 2022