RGD Reference Report - Limb-girdle muscular dystrophy 2I: phenotypic variability within a large consanguineous Bedouin family associated with a novel FKRP mutation. - Rat Genome Database

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Limb-girdle muscular dystrophy 2I: phenotypic variability within a large consanguineous Bedouin family associated with a novel FKRP mutation.

Authors: Harel, Tamar  Goldberg, Yael  Shalev, Stavit A  Chervinski, Ilana  Ofir, Rivka  Birk, Ohad S 
Citation: Harel T, etal., Eur J Hum Genet. 2004 Jan;12(1):38-43.
RGD ID: 11667959
Pubmed: PMID:14523375   (View Abstract at PubMed)
DOI: DOI:10.1038/sj.ejhg.5201087   (Journal Full-text)

Limb-girdle muscular dystrophies (LGMDs) represent a group of diseases characterized mainly by muscle wasting of the upper and lower limbs, with a wide range of clinical severity. The clinical heterogeneity is paralleled by molecular heterogeneity; each of the 10 forms of autosomal-recessive LGMD recognized to date is caused by mutations in a distinct gene. In a large consanguineous Bedouin tribe living in northern Israel, 15 individuals affected by LGMD demonstrate an autosomal recessive pattern of inheritance. A genome-wide screen followed by fine mapping in this family revealed linkage to a region on chromosome 19 harboring the fukutin-related protein gene (FKRP), with a maximal LOD score of 4.8 for D19S902. FKRP, encoding a putative glycosyltransferase, has been implicated in causing congenital muscular dystrophy 1C (MDC1C), and has recently been shown to be mutated in LGMD2I. We identified a novel missense mutation in exon 4 of the FKRP gene in all the patients studied. Although all affected individuals were homozygous for the same mutation, a marked phenotypic variability was apparent within the family. This finding may suggest a role of modifier genes and environmental factors in LGMD2I. Moreover, the demonstration that an identical, novel mutation in the FKRP gene can cause a muscle disease of either a congenital onset or of a later onset within a single family provides clinical support to the molecular evidence, suggesting that MDC1C and LGMD2I are overlapping ends of one and the same entity.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
limb-girdle muscular dystrophy  IAGP 11667959DNA:missense mutation:exon:p.R54W (160C>T) (human)RGD 
limb-girdle muscular dystrophy  ISOFKRP (Homo sapiens)11667959; 11667959DNA:missense mutation:exon:p.R54W (160C>T) (human)RGD 

Objects Annotated

Genes (Rattus norvegicus)
Fkrp  (fukutin related protein)

Genes (Mus musculus)
Fkrp  (fukutin related protein)

Genes (Homo sapiens)
FKRP  (fukutin related protein)


Additional Information