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NM_001079802.2(FKTN):c.1167dup (p.Phe390fs) AND Autosomal recessive limb-girdle muscular dystrophy type 2M

Germline classification:
Pathogenic (2 submissions)
Last evaluated:
Mar 21, 2019
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV000003357.15

Allele description [Variation Report for NM_001079802.2(FKTN):c.1167dup (p.Phe390fs)]

NM_001079802.2(FKTN):c.1167dup (p.Phe390fs)

Gene:
FKTN:fukutin [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
9q31.2
Genomic location:
Preferred name:
NM_001079802.2(FKTN):c.1167dup (p.Phe390fs)
HGVS:
  • NC_000009.11:g.108382330_108382331insA
  • NC_000009.12:g.105620056dup
  • NG_008754.1:g.66927dup
  • NM_001079802.2:c.1167dupMANE SELECT
  • NM_001198963.2:c.1167dup
  • NM_001351496.2:c.1167dup
  • NM_001351497.2:c.1098dup
  • NM_001351498.2:c.1167dup
  • NM_001351499.2:c.771dup
  • NM_001351500.2:c.771dup
  • NM_001351501.2:c.771dup
  • NM_001351502.2:c.771dup
  • NM_006731.2:c.1167dup
  • NP_001073270.1:p.Phe390fs
  • NP_001185892.1:p.Phe390fs
  • NP_001338425.1:p.Phe390fs
  • NP_001338426.1:p.Phe367fs
  • NP_001338427.1:p.Phe390fs
  • NP_001338428.1:p.Phe258fs
  • NP_001338429.1:p.Phe258fs
  • NP_001338430.1:p.Phe258fs
  • NP_001338431.1:p.Phe258fs
  • NP_006722.2:p.Phe390fs
  • LRG_434t2:c.1167dup
  • LRG_434:g.66927dup
  • LRG_434p2:p.Phe390fs
  • NC_000009.11:g.108382330_108382331insA
  • NC_000009.11:g.108382337dup
  • NC_000009.11:g.108382337dupA
  • NM_001079802.1:c.1167dupA
  • NM_001079802.2:c.1167dup
  • NM_006731.2:c.1167dupA
  • NR_147213.2:n.1118dup
  • NR_147214.2:n.1290dup
  • c.1167dupA (p.Phe390Ilefs*14)
  • c.1167insA
Note:
NCBI staff reviewed the sequence information reported in PubMed 10545611 Fig. 3 to determine the location of this allele on the current reference sequence.
Protein change:
F258fs
Links:
Genetic Testing Registry (GTR): GTR000531545; Genetic Testing Registry (GTR): GTR000570054; OMIM: 607440.0005; dbSNP: rs398123555
NCBI 1000 Genomes Browser:
rs398123555
Molecular consequence:
  • NM_001079802.2:c.1167dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001198963.2:c.1167dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001351496.2:c.1167dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001351497.2:c.1098dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001351498.2:c.1167dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001351499.2:c.771dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001351500.2:c.771dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001351501.2:c.771dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001351502.2:c.771dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_006731.2:c.1167dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NR_147213.2:n.1118dup - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_147214.2:n.1290dup - non-coding transcript variant - [Sequence Ontology: SO:0001619]
Observations:
1

Condition(s)

Name:
Autosomal recessive limb-girdle muscular dystrophy type 2M
Synonyms:
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 4; MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2M; Limb-girdle muscular dystrophy-dystroglycanopathy, type C4
Identifiers:
MONDO: MONDO:0012699; MedGen: C1969040; Orphanet: 206554; OMIM: 611588

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000023515OMIM
no assertion criteria provided
Pathogenic
(Feb 1, 2008) 		germlineliterature only

PubMed (3)
[See all records that cite these PMIDs]

SCV001448834Knight Diagnostic Laboratories, Oregon Health and Sciences University
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Mar 21, 2019) 		germlineclinical testing

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
not providedgermlineunknown1not providednot providednot providednot providedclinical testing

Citations

PubMed

Two new patients bearing mutations in the fukutin gene confirm the relevance of this gene in Walker-Warburg syndrome.

Cotarelo RP, Valero MC, Prados B, Peña A, Rodríguez L, Fano O, Marco JJ, Martínez-Frías ML, Cruces J.

Clin Genet. 2008 Feb;73(2):139-45. doi: 10.1111/j.1399-0004.2007.00936.x. Epub 2007 Dec 19.

PubMed [citation]
PMID:
18177472

Fukutin gene mutations in steroid-responsive limb girdle muscular dystrophy.

Godfrey C, Escolar D, Brockington M, Clement EM, Mein R, Jimenez-Mallebrera C, Torelli S, Feng L, Brown SC, Sewry CA, Rutherford M, Shapira Y, Abbs S, Muntoni F.

Ann Neurol. 2006 Nov;60(5):603-610. doi: 10.1002/ana.21006.

PubMed [citation]
PMID:
17044012
See all PubMed Citations (4)

Details of each submission

From OMIM, SCV000023515.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (3)

Description

In a girl with severe FCMD (MDDGA4; 253800) including microphthalmia, Kondo-Iida et al. (1999) identified a 1-bp insertion (1279insA) in exon 9 of the FKTN gene, causing a frameshift and a premature stop at codon 403. The patient carried the founder insertion (607440.0001) from her mother; however, the 1-bp insertion could not be detected in the father by either SSCP or by direct sequencing, leading Kondo-Iida et al. (1999) to conclude that this was the first example of a de novo mutation.

In a cell line from an Ashkenazi Jewish male diagnosed with Walker-Warburg syndrome (MDDGA4), Cotarelo et al. (2008) identified homozygosity for a 1-bp insertion within a stretch of 6 adenine residues in exon 9 (1160_1168insA). Cell lines from the unrelated, unaffected parents revealed that they were heterozygous carriers of the insertion.

In 2 sibs and an unrelated child with FKTN-related limb-girdle muscular dystrophy (MDDGC4; 611588), Godfrey et al. (2006) identified compound heterozygosity for mutations in the FKTN gene. All 3 children had a 1-bp insertion in exon 9 (1167insA), which the authors stated was the same mutation as that identified by Kondo-Iida et al. (1999). The insertion was predicted to result in a frameshift at phe390 and premature termination, followed by nonsense-mediated decay of the mRNA transcript. The second mutant allele identified was a 1-bp deletion (607440.0008) in 1 child and a missense mutation (R307Q; 607440.0009) in 2 sibs. The patients showed early-onset proximal muscular dystrophy, normal intelligence and brain structure, and favorable response to steroid treatment.

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

From Knight Diagnostic Laboratories, Oregon Health and Sciences University, SCV001448834.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided1not providednot providednot provided

Last Updated: Jul 7, 2024