RGD Reference Report - The most common mutation in FKRP causing limb girdle muscular dystrophy type 2I (LGMD2I) may have occurred only once and is present in Hutterites and other populations.

General

The most common mutation in FKRP causing limb girdle muscular dystrophy type 2I (LGMD2I) may have occurred only once and is present in Hutterites and other populations.
Authors:	Frosk, Patrick Greenberg, Cheryl R Tennese, Alysa A P Lamont, Ryan Nylen, Edward Hirst, Cheryl Frappier, Danielle Roslin, Nicole M Zaik, Michaela Bushby, Kate Straub, Volker Zatz, Mayana de Paula, Flavia Morgan, Kenneth Fujiwara, T Mary Wrogemann, Klaus
Citation:	Frosk P, etal., Hum Mutat. 2005 Jan;25(1):38-44.
RGD ID:	11667967
Pubmed:	PMID:15580560 (View Abstract at PubMed)
DOI:	DOI:10.1002/humu.20110 (Journal Full-text)
Limb girdle muscular dystrophy (LGMD) is common in the Hutterite population of North America. We previously identified a mutation in the TRIM32 gene in chromosome region 9q32, causing LGMD2H in approximately two-thirds of the 60 Hutterite LGMD patients studied to date. A genomewide scan was undertaken in five families who did not show linkage to the LGMD2H locus on chromosome 9. A second LGMD locus, LGMD2I, was identified in chromosome region 19q13.3, and the causative mutation was identified as c.826C>A (L276I), a missense mutation in the FKRP gene. A comparison of the clinical characteristics of the two LGMD patient groups in this population reveals some differences. LGMD2I patients generally have an earlier age at diagnosis, a more severe course, and higher serum creatine kinase (CK) levels. In addition, some of these patients show calf hypertrophy, cardiac symptoms, and severe reactions to general anesthesia. None of these features are present among LGMD2H patients. A single common haplotype surrounding the FKRP gene was identified in the Hutterite LGMD2I patients. An identical core haplotype was also identified in 19 other non-Hutterite LGMD2I patients from Europe, Canada, and Brazil. The occurrence of this mutation on a common core haplotype suggests that L276I is a founder mutation that is dispersed among populations of European origin.

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Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
autosomal recessive limb-girdle muscular dystrophy type 2I		IAGP		11667967	DNA:missense mutation:exon:p.L276I (826C>A) (human)	RGD
autosomal recessive limb-girdle muscular dystrophy type 2I		ISO	FKRP (Homo sapiens)	11667967; 11667967	DNA:missense mutation:exon:p.L276I (826C>A) (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)

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The most common mutation in FKRP causing limb girdle muscular dystrophy type 2I (LGMD2I) may have occurred only once and is present in Hutterites and other populations.