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Single allele AND Loeys-Dietz syndrome 4

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Aug 15, 2021
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:
RCV001837015.1

Allele description [Variation Report for Single allele]

Genes:
  • BPNT1:3'(2'), 5'-bisphosphate nucleotidase 1 [Gene - OMIM - HGNC]
  • BROX:BRO1 domain and CAAX motif containing [Gene - HGNC]
  • GPATCH2:G-patch domain containing 2 [Gene - OMIM - HGNC]
  • HLX:H2.0 like homeobox [Gene - OMIM - HGNC]
  • HHIPL2:HHIP like 2 [Gene - HGNC]
  • MIA3:MIA SH3 domain ER export factor 3 [Gene - OMIM - HGNC]
  • RAB3GAP2:RAB3 GTPase activating non-catalytic protein subunit 2 [Gene - OMIM - HGNC]
  • TAF1A:TATA-box binding protein associated factor, RNA polymerase I subunit A [Gene - OMIM - HGNC]
  • AIDA:axin interactor, dorsalization associated [Gene - OMIM - HGNC]
  • C1orf115:chromosome 1 open reading frame 115 [Gene - HGNC]
  • DISP1:dispatched RND transporter family member 1 [Gene - OMIM - HGNC]
  • DUSP10:dual specificity phosphatase 10 [Gene - OMIM - HGNC]
  • ESRRG:estrogen related receptor gamma [Gene - OMIM - HGNC]
  • FAM177B:family with sequence similarity 177 member B [Gene - HGNC]
  • EPRS1:glutamyl-prolyl-tRNA synthetase 1 [Gene - OMIM - HGNC]
  • IARS2:isoleucyl-tRNA synthetase 2, mitochondrial [Gene - OMIM - HGNC]
  • LYPLAL1:lysophospholipase like 1 [Gene - OMIM - HGNC]
  • MIR194-1:microRNA 194-1 [Gene - OMIM - HGNC]
  • MIR215:microRNA 215 [Gene - OMIM - HGNC]
  • MARK1:microtubule affinity regulating kinase 1 [Gene - OMIM - HGNC]
  • MTARC1:mitochondrial amidoxime reducing component 1 [Gene - OMIM - HGNC]
  • MTARC2:mitochondrial amidoxime reducing component 2 [Gene - OMIM - HGNC]
  • KCTD3:potassium channel tetramerization domain containing 3 [Gene - OMIM - HGNC]
  • KCNK2:potassium two pore domain channel subfamily K member 2 [Gene - OMIM - HGNC]
  • RRP15:ribosomal RNA processing 15 homolog [Gene - OMIM - HGNC]
  • SLC30A10:solute carrier family 30 member 10 [Gene - OMIM - HGNC]
  • SPATA17:spermatogenesis associated 17 [Gene - OMIM - HGNC]
  • TGFB2:transforming growth factor beta 2 [Gene - OMIM - HGNC]
  • USH2A:usherin [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
1q41
Genomic location:
Chr1: 215199578 - 223035427 (on Assembly GRCh37)
HGVS:
NC_000001.10:g.215199578_223035427del
Functional consequence:
complete gene deletion [Variation Ontology: 0169]
Observations:
1

Condition(s)

Name:
Loeys-Dietz syndrome 4 (LDS4)
Synonyms:
ANEURYSM, AORTIC AND CEREBRAL, WITH ARTERIAL TORTUOSITY AND SKELETAL MANIFESTATIONS
Identifiers:
MONDO: MONDO:0013897; MedGen: C3553762; OMIM: 614816

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001786696School of Medicine, Southern Illinois University
no assertion criteria provided
Pathogenic
(Aug 15, 2021) 		paternalclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
African Americanpaternalyes1not providednot providednot providednot providedclinical testing

Citations

PubMed

4.7 Mb deletion encompassing TGFB2 associated with features of Loeys-Dietz syndrome and osteoporosis in adulthood.

Gaspar H, Lutz B, Reicherter K, Lühl S, Taurman R, Gabriel H, Brenner RE, Borck G.

Am J Med Genet A. 2017 Aug;173(8):2289-2292. doi: 10.1002/ajmg.a.38286. Epub 2017 May 25. No abstract available.

PubMed [citation]
PMID:
28544325

Loss-of-function mutations in TGFB2 cause a syndromic presentation of thoracic aortic aneurysm.

Lindsay ME, Schepers D, Bolar NA, Doyle JJ, Gallo E, Fert-Bober J, Kempers MJ, Fishman EK, Chen Y, Myers L, Bjeda D, Oswald G, Elias AF, Levy HP, Anderlid BM, Yang MH, Bongers EM, Timmermans J, Braverman AC, Canham N, Mortier GR, Brunner HG, et al.

Nat Genet. 2012 Jul 8;44(8):922-7. doi: 10.1038/ng.2349.

PubMed [citation]
PMID:
22772368
PMCID:
PMC3616632

Details of each submission

From School of Medicine, Southern Illinois University, SCV001786696.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1African American1not providednot providedclinical testing PubMed (2)

Description

TGFB2 gene is deleted contributing to the patient's symptoms of connective tissue disease: recurrent fractures, exotropia, brachycephaly, aortic dilation, and arterial tortuosity.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1paternalyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Apr 23, 2022