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NM_004527.4(MEOX1):c.664C>T (p.Arg222Ter) AND Klippel-Feil syndrome 2, autosomal recessive

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jan 10, 2013
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:
RCV000032704.4

Allele description [Variation Report for NM_004527.4(MEOX1):c.664C>T (p.Arg222Ter)]

NM_004527.4(MEOX1):c.664C>T (p.Arg222Ter)

Gene:
MEOX1:mesenchyme homeobox 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17q21.31
Genomic location:
Preferred name:
NM_004527.4(MEOX1):c.664C>T (p.Arg222Ter)
HGVS:
  • NC_000017.11:g.43642011G>A
  • NG_032987.1:g.24884C>T
  • NM_001040002.2:c.319C>T
  • NM_004527.4:c.664C>TMANE SELECT
  • NM_013999.4:c.491C>T
  • NP_001035091.1:p.Arg107Ter
  • NP_004518.1:p.Arg222Ter
  • NP_054705.1:p.Pro164Leu
  • LRG_708t1:c.319C>T
  • LRG_708t2:c.664C>T
  • LRG_708:g.24884C>T
  • LRG_708p1:p.Arg107Ter
  • LRG_708p2:p.Arg222Ter
  • NC_000017.10:g.41719379G>A
  • NM_004527.3:c.664C>T
Note:
ClinGen staff contributed the HGVS expression for this variant.
Protein change:
P164L; ARG222TER
Links:
OMIM: 600147.0002; dbSNP: rs772798486
NCBI 1000 Genomes Browser:
rs772798486
Molecular consequence:
  • NM_013999.4:c.491C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001040002.2:c.319C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_004527.4:c.664C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Klippel-Feil syndrome 2, autosomal recessive (KFS2)
Synonyms:
CERVICAL VERTEBRAL FUSION, AUTOSOMAL RECESSIVE; KFS, AUTOSOMAL RECESSIVE; Klippel Feil syndrome autosomal recessive; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0008958; MedGen: C1859209; Orphanet: 2345; OMIM: 214300

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000056467OMIM
no assertion criteria provided
Pathogenic
(Jan 10, 2013) 		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 MEOX1, encoding mesenchyme homeobox 1, cause Klippel-Feil anomaly.

Mohamed JY, Faqeih E, Alsiddiky A, Alshammari MJ, Ibrahim NA, Alkuraya FS.

Am J Hum Genet. 2013 Jan 10;92(1):157-61. doi: 10.1016/j.ajhg.2012.11.016. Epub 2013 Jan 3.

PubMed [citation]
PMID:
23290072
PMCID:
PMC3542464

Details of each submission

From OMIM, SCV000056467.1

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

Description

In a brother and sister with Klippel-Feil syndrome (KFS2; 214300), born of first-cousin parents, Mohamed et al. (2013) identified heterozygosity for a 664C-T transition in exon 3 of the MEOX1 gene, resulting in an arg222-to-ter (R222X) substitution. RT-PCR of blood-derived patient RNA consistently showed complete absence of the mutant transcript, consistent with nonsense-mediated decay. The brother was diagnosed with Pierre-Robin sequence (see 261800) at birth and underwent repair of a U-shaped cleft palate; he also had a short neck with severely limited mobility, low posterior hairline, scoliosis, and ptosis. Skeletal survey revealed a cervical segmentation defect as well as omovertebral bones, Sprengel deformity, and a thoracic dextroscoliotic deformity between T2 and T11. His sister had identical physical findings except for absence of cleft palate.

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

Last Updated: Apr 23, 2022