NM_001079802.1(FKTN):c.920G>A (p.Arg307Gln) AND Limb-girdle muscular dystrophy-dystroglycanopathy, type C4

This record was updated by the submitter. Please see the current version.

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: Jun 15, 2017
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:: RCV000003362.3

Allele description

NM_001079802.1(FKTN):c.920G>A (p.Arg307Gln)

Gene:

FKTN:fukutin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

9q31.2

Genomic location:

Preferred name:

NM_001079802.1(FKTN):c.920G>A (p.Arg307Gln)

HGVS:

NC_000009.12:g.105617968G>A
NG_008754.1:g.64839G>A
NM_001079802.1:c.920G>A
NM_006731.2:c.920G>A
NP_001073270.1:p.Arg307Gln
NP_006722.2:p.Arg307Gln
LRG_434t1:c.920G>A
LRG_434t2:c.920G>A
LRG_434:g.64839G>A
LRG_434p1:p.Arg307Gln
LRG_434p2:p.Arg307Gln
NC_000009.11:g.108380249G>A
O75072:p.Arg307Gln

Protein change:

R307Q; ARG307GLN

Links:

UniProtKB: O75072#VAR_039288; OMIM: 607440.0009; dbSNP: rs119463992

NCBI 1000 Genomes Browser:

rs119463992

Molecular consequence:

NM_001079802.1:c.920G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Name:: Limb-girdle muscular dystrophy-dystroglycanopathy, type C4 (MDDGC4)
Synonyms:: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 4; MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2M
Identifiers:: MedGen: C1969040; Orphanet: 206554; OMIM: 611588

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000023520	OMIM	no assertion criteria provided	Pathogenic (May 26, 2009)	germline	literature only	PubMed (3) [See all records that cite these PMIDs] 17044012, 19299310, 19179078
SCV000700704	EGL Genetic Diagnostics,Eurofins Clinical Diagnostics	criteria provided, single submitter (EGL Classification Definitions)	Pathogenic (Jun 15, 2017)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000023520

OMIM

no assertion criteria provided

Pathogenic
(May 26, 2009)

germline

literature only

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

SCV000700704

EGL Genetic Diagnostics,Eurofins Clinical Diagnostics

criteria provided, single submitter

(EGL Classification Definitions)

Pathogenic
(Jun 15, 2017)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	5	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

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

Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study.

Mercuri E, Messina S, Bruno C, Mora M, Pegoraro E, Comi GP, D'Amico A, Aiello C, Biancheri R, Berardinelli A, Boffi P, Cassandrini D, Laverda A, Moggio M, Morandi L, Moroni I, Pane M, Pezzani R, Pichiecchio A, Pini A, Minetti C, Mongini T, et al.

Neurology. 2009 May 26;72(21):1802-9. doi: 10.1212/01.wnl.0000346518.68110.60. Epub 2009 Mar 18. Erratum in: Neurology. 2019 Aug 20;93(8):371.

PubMed [citation]

PMID:: 19299310

See all PubMed Citations (3)

Details of each submission

From OMIM, SCV000023520.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (3)

Description

In 2 sibs with FKTN-related limb-girdle muscular dystrophy (MDDGC4; 611588) without mental retardation, Godfrey et al. (2006) identified compound heterozygosity for a 920G-A transition in exon 8 of the FKTN gene, resulting in an arg307-to-gln (R307Q) substitution, and a 1-bp insertion (607440.0005). Functional expression studies showed that the R307Q mutant protein was expressed and localized correctly within the cell.

Mercuri et al. (2009) identified compound heterozygosity for 2 mutations in the FKTN gene (R307Q and 42delG; 607440.0019) in 1 of 81 Italian patients with congenital muscular dystrophy (MDDGB4; 613152) associated with defective glycosylation of alpha-dystroglycan. The patient did not have mental retardation and had no structural brain abnormalities.

Vuillaumier-Barrot et al. (2009) identified a homozygous R307Q mutation in a Turkish girl with a moderately severe form of muscular dystrophy. She had delayed motor development, pes equinovarus, increased serum creatine kinase, generalized proximal muscle weakness, and diffuse muscle wasting of the calves. The disorder was progressive, and she lost ambulation at 11 years and developed contractures. Intelligence and brain MRI were normal.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From EGL Genetic Diagnostics,Eurofins Clinical Diagnostics, SCV000700704.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	5	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		5	not provided	not provided	not provided

Last Updated: Jul 21, 2018

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