NM_001277115.2(DNAH11):c.8533C>T (p.Arg2845Ter) AND CILIARY DYSKINESIA, PRIMARY, 7, WITH SITUS INVERSUS

Clinical significance:Pathogenic (Last evaluated: Aug 6, 2002)

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:
RCV000590992.3

Allele description [Variation Report for NM_001277115.2(DNAH11):c.8533C>T (p.Arg2845Ter)]

NM_001277115.2(DNAH11):c.8533C>T (p.Arg2845Ter)

Gene:
DNAH11:dynein axonemal heavy chain 11 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
7p15.3
Genomic location:
Preferred name:
NM_001277115.2(DNAH11):c.8533C>T (p.Arg2845Ter)
Other names:
R2852*
HGVS:
  • NC_000007.14:g.21748602C>T
  • NG_012886.2:g.210388C>T
  • NM_001277115.2:c.8533C>TMANE SELECT
  • NM_003777.3:c.8554C>T
  • NP_001264044.1:p.Arg2845Ter
  • NC_000007.13:g.21788220C>T
Protein change:
R2845*; ARG2852TER
Links:
OMIM: 603339.0001; dbSNP: rs121908854
NCBI 1000 Genomes Browser:
rs121908854
Molecular consequence:
  • NM_001277115.2:c.8533C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
CILIARY DYSKINESIA, PRIMARY, 7, WITH SITUS INVERSUS
Identifiers:

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000027043OMIMno assertion criteria providedPathogenic
(Aug 6, 2002)
germlineliterature only

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

Summary from all submissions

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

Citations

PubMed

Mutations in the DNAH11 (axonemal heavy chain dynein type 11) gene cause one form of situs inversus totalis and most likely primary ciliary dyskinesia.

Bartoloni L, Blouin JL, Pan Y, Gehrig C, Maiti AK, Scamuffa N, Rossier C, Jorissen M, Armengot M, Meeks M, Mitchison HM, Chung EM, Delozier-Blanchet CD, Craigen WJ, Antonarakis SE.

Proc Natl Acad Sci U S A. 2002 Aug 6;99(16):10282-6. Epub 2002 Jul 25.

PubMed [citation]
PMID:
12142464
PMCID:
PMC124905

Paternal isodisomy of chromosome 7 associated with complete situs inversus and immotile cilia.

Pan Y, McCaskill CD, Thompson KH, Hicks J, Casey B, Shaffer LG, Craigen WJ.

Am J Hum Genet. 1998 Jun;62(6):1551-5. No abstract available.

PubMed [citation]
PMID:
9585585
PMCID:
PMC1377136

Details of each submission

From OMIM, SCV000027043.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (2)

Description

In a boy with primary ciliary dyskinesia-7 (CILD7; 611884) associated with complete situs inversus, consistent with Kartagener syndrome, Bartoloni et al. (2002) identified a homozygous 8554C-T transition in the DNAH11 gene, resulting in an arg2852-to-ter (R2852X) substitution. The patient had previously been reported by Pan et al. (1998), who determined that he had paternal isodisomy of chromosome 7 and also had cystic fibrosis (CF; 219700) due to a homozygous mutation in the CFTR gene (602421.0001). The respiratory disease had an earlier age of onset and was considerably more severe than usually seen in CF patients with the same mutation. Ciliary analysis showed no normal motion, but normal structure on electron microscopy. In addition to respiratory problems, the patient had dextrocardia with a structurally normal heart and visceral situs inversus with one structurally normal spleen. The patient was thought to have cooccurrence of 2 distinct but related phenotypes: CF and CILD.

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

Last Updated: Sep 29, 2021

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