A new mutation of the <i>fukutin</i> gene in a non‐Japanese patient

Sılan, Fatma; Yoshioka, Mieko; Kobayashi, Kenzo; Şimşek, Enver; Tunç, Murat; Alper, Murat; Cam, Meryem; Güven, Aysel; Fukuda, Yoshimasa; Kinoshita, Moritoshi; Kocabay, Kenan; Toda, Tatsushi

doi:10.1002/ana.10491

Cited by 98 publications

(65 citation statements)

References 18 publications

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“…However, a recent report has identified several Japanese patients presenting with mild limb-girdle dystrophy (LGMD2M, MIM 611588) and normal intelligence (6) and who have a retrotransposal mutation and a point mutation in the fukutin gene. Outside Japan, fukutin mutations have been reported in patients with various phenotypes, from Walker-Warburg syndrome (WWS, MIM 236670) to LGMD (7)(8)(9)(10)(11)(12)(13). Overall, the current common understanding is that fukutin alterations can give rise to a wide spectrum of phenotypes.…”

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confidence: 99%

Mislocalization of Fukutin Protein by Disease-causing Missense Mutations Can Be Rescued with Treatments Directed at Folding Amelioration

Tachikawa

Kanagawa

et al. 2012

Journal of Biological Chemistry

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confidence: 99%

Mislocalization of Fukutin Protein by Disease-causing Missense Mutations Can Be Rescued with Treatments Directed at Folding Amelioration

Tachikawa

Kanagawa

et al. 2012

Journal of Biological Chemistry

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“…Both parents and the brother were heterozygous for this mutation. This is the first case worldwide in which a FKTN mutation has been found outside the Japanese population (Silan et al, 2003 FKTN and FKRP mutations in particular were much more common than previously suggested and were mostly identified in non-consanguineous patients of European descent (6/27 cases). All Ashkenazi Jewish patients in their group shared an identical haplotype at the FKTN locus and the same homozygous mutation c.1167_1168insA in exon 9 suggesting a founder effect in this population.…”

Section: Worldwide Distribution Of Fukutin Mutationmentioning

confidence: 70%

Alpha-Dystroglycanopathy

Yoshioka¹

2012

Muscular Dystrophy

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“…All the patients carrying the compound heterozygous mutations in the previous study had elevated serum CK concentrations, although they showed no or minimal skeletal muscle phenotypes. 14 The hyper-CKemia can also be found in the patients carrying FKTN mutations affected with FCMD 18 or LGMD. 19,20 These observations are in good agreement with the association between the FKTN mutations and hyper-CKemia.…”

Section: Discussionmentioning

confidence: 99%

Mutational Analysis of Fukutin Gene in Dilated Cardiomyopathy and Hypertrophic Cardiomyopathy

Arimura

Hayashi

Murakami

et al. 2009

Circ J

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Circ J 2009; 73: 158 -161 diopathic cardiomyopathy (ICM), which is mainly classified into 2 clinical phenotypes; hypertrophic cardiomyopathy (HCM) and dilated cardiomyopathy (DCM), is a primary heart muscle disorder caused by functional abnormalities in the cardiomyocytes and a major cause of sudden cardiac death and progressive heart failure. 1 Although the etiology of ICM has not been completely elucidated, recent molecular genetic studies have shown that ICM can be caused by a variety of genetic abnormalities. 1 Inheritance of familial HCM is usually autosomal dominant, whereas that of familial DCM is autosomal dominant, autosomal recessive, or X-linked recessive, ie, various type of disease inheritance can be found in DCM cases. 2,3 It also should be noted that causative gene mutations could be found not only in familial cases but also in sporadic cases, indicating that the absence of family history cannot exclude a possibility of causative gene mutation in ICM cases. 3 In addition, mutations in muscular dystrophy-causing genes might also lead to ICM phenotype, as exemplified that titin/connectin gene (TTN) mutations were found in patients with HCM, 4 DCM 5 or tibial musclular dystrophy and limb-girdle type muscular dystrophy (LGMD) 6 and that Tcap gene (TCAP) mutations were found in HCM and DCM, 7 as well as in LGMD. 8 These observations indicate that there is an etiological overlap between ICM, and the skeletal muscle disorders. 9 Mutations in FKTN encoding for fukutin cause Fukuyamatype congenital muscular dystrophy (FCMD; MIM253800), the second most common muscular dystrophy in Japan after Duchenne muscular dystrophy. FCMD is an autosomal recessive disease manifested with severe muscle wasting and mental retardation. 10,11 The majority of the FCMD patients were homozygous for a 3-kb insertion in the 3' non-coding region of FKTN, whereas a small population of FCMD patients were compound heterozygotes of the 3-kb insertion and a missense mutation. 12,13 In addition, we recently identified compound heterozygotes of the insertion and a missense mutation in 2 sibling cases and 2 sporadic cases of DCM, who manifested with minimal muscle weakness and elevated serum creatine kinase (CK) concentration, hyperCKemia, but not mental retardation. 14 However, it remains unknown whether FKTN mutation can be associated with ICM not accompanied by signs of muscular dystrophy and in which type of ICM patients who should be examined for FKTN mutations as a disease-causing gene.In the present study, we searched for FKTN mutations in a large panel of patients with DCM or HCM. We found a compound heterozygote of FKTN mutations in 1 out of 172 DCM patients, who also had mild muscular dystrophy and hyper-CKemia. There was a DCM patient who was a compound heterozygote of a 3-kb insertion mutation and a missense mutation Cys101Phe. The patient showed hyper-CKemia with mild muscle involvement and no brain involvement. In contrast, 2 other DCM patients and 3 controls were heterozygous for the insertion mutation and normal alle...

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A new mutation of the fukutin gene in a non‐Japanese patient

Cited by 98 publications

References 18 publications

Mislocalization of Fukutin Protein by Disease-causing Missense Mutations Can Be Rescued with Treatments Directed at Folding Amelioration

Mislocalization of Fukutin Protein by Disease-causing Missense Mutations Can Be Rescued with Treatments Directed at Folding Amelioration

Alpha-Dystroglycanopathy

Mutational Analysis of Fukutin Gene in Dilated Cardiomyopathy and Hypertrophic Cardiomyopathy

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