<i>SEPN1</i>: Associated with congenital fiber‐type disproportion and insulin resistance

Clarke, Nigel F.; Kidson, Warren; Quijano‐Roy, Susana; Estournet, B.; Ferreiro, Ana; Guicheney, Pascale; Manson, J. I.; Kornberg, Andrew J.; Shield, Lloyd K.; North, Klaus

doi:10.1002/ana.20761

Cited by 169 publications

(77 citation statements)

References 15 publications

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“…This condition, however, is genetically heterogeneous and has been observed in several forms of congenital myopathies, neuromuscular disorders, and muscular dystrophies (Clarke and North 2003). Mutations in ACTA1 (Laing et al 2004), SEPN1 (Clarke et al 2006), TPM3 (Clarke et al 2008), RYR1 (Wilmshurst et al 2010), and more recently MYH7 (Ortolano et al 2011) have also been identified in patients with FTD. To add to its nonspecific nature, this morphological finding has been reported in association with several inherited metabolic disorders including Pompe disease (Martin et al 1976), multiple sulfatase deficiency (Tachi et al 1984), congenital lactic acidosis (Iso et al 1993), metachromatic leukodystrophy (Krendel et al 1994), carnitine palmitoyltransferase deficiency (Shintani et al 1995), and Krabbe disease (Marjanovic et al 1996).…”

Section: Discussionmentioning

confidence: 99%

Further Delineation of the Phenotype of Congenital Disorder of Glycosylation DPAGT1-CDG (CDG-Ij) Identified by Homozygosity Mapping

2011

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Congenital disorders of glycosylation (CDG) are an expanding group of genetic diseases affecting protein and lipid glycosylation. These disorders have a variable presentation and are individually rare. DPAGT1-CDG is a protein N-glycosylation disorder with epilepsy, development delay, severe hypotonia, and dysmorphy, reported in a single patient. Here we present the second family with DPAGT1-CDG identified through homozygosity mapping in a large consanguineous family with 18 affected infants. The patients had severe hypotonia, global developmental delay, seizures, and microcephaly but no dysmorphy. In the index case, the brain MRI revealed delayed myelination, and there was fiber type disproportion on muscle biopsy. Homozygosity mapping identified a large block of homozygosity on chromosome 11p15.5-q25 where two known CDG-I causing genes, ALG9 and DPAGT1, are located. Sequencing ALG9 did not reveal any mutations while analysis of DPAGT1 identified a novel homozygous mutation c.902G>A (p.R301H) in two affected infants. The disorder was fatal in all affected cases and mostly in early infancy.

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Section: Discussionmentioning

confidence: 99%

Further Delineation of the Phenotype of Congenital Disorder of Glycosylation DPAGT1-CDG (CDG-Ij) Identified by Homozygosity Mapping

2011

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“…later, they 189 also demonstrated homozygous sePN1 deletion in patients with CMD with Mallory body-like inclusions. Finally Clarke et al 190 described sePN1mutations in two sisters with a diagnosis of typical congenital fiber-type disproportion without minicore lesions or dystrophic changes. Therefore the spectrum of selenoprotein-related disorders includes rigid spine CMD, multiminicore myopathy, desmin-related myopathy with Mallory body-like inclusions and congenital fiber-type disproportion.…”

Section: Therapeutic Perspectivesmentioning

confidence: 99%

Congenital muscular dystrophy. Part II: a review of pathogenesis and therapeutic perspectives

Reed

2009

Arq. Neuro-Psiquiatr.

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-The congenital muscular dystrophies (CMDs) are a group of genetically and clinically heterogeneous hereditary myopathies with preferentially autosomal recessive inheritance, that are characterized by congenital hypotonia, delayed motor development and early onset of progressive muscle weakness associated with dystrophic pattern on muscle biopsy. The clinical course is broadly variable and can comprise the involvement of the brain and eyes. From 1994, a great development in the knowledge of the molecular basis has occurred and the classification of CMDs has to be continuously up dated. In the last number of this journal, we presented the main clinical and diagnostic data concerning the different subtypes of CMD. In this second part of the review, we analyse the main reports from the literature concerning the pathogenesis and the therapeutic perspectives of the most common subtypes of CMD: MDC1A with merosin deficiency, collagen VI related CMDs (Ullrich and Bethlem), CMDs with abnormal glycosylation of alpha-dystroglycan (Fukuyama CMD, Muscleeye-brain disease, Walker Warburg syndrome, MDC1C, MDC1D), and rigid spine syndrome, another much rare subtype of CMDs not related with the dystrophin/glycoproteins/extracellular matrix complex.Key WorDs: congenital muscular dystrophy, MDC1A, collagen VI related disorders, glycosylation of alphadystroglycan, Fukuyama DMC, muscle-eye-brain (MeB) disease, Walker-Warburg syndrome, rigid spine syndrome. distrofia muscular congênita. parte ii: revisão da patogênese e perspectivas terapêuticas resumo -As distrofias musculares congênitas (DMCs) são miopatias hereditárias geralmente, porém não exclusivamente, de herança autossômica recessiva, que apresentam grande heterogeneidade genética e clínica. são caracterizadas por hipotonia muscular congênita, atraso do desenvolvimento motor e fraqueza muscular de início precoce associada a padrão distrófico na biópsia muscular. o quadro clínico, de gravidade variável, pode também incluir anormalidades oculares e do sistema nervoso central. A partir de 1994, os conhecimentos sobre genética e biologia molecular das DMCs progrediram rapidamente, sendo a classificação continuamente atualizada. os aspectos clínicos e diagnósticos dos principais subtipos de DMC foram apresentados no número anterior deste periódico, como primeira parte desta revisão. Nesta segunda parte apresentaremos os principais mecanismos patogênicos e as perspectivas terapêuticas dos subtipos mais comuns de DMC: DMC tipo 1A com deficiência de merosina, DMCs relacionadas com alterações do colágeno VI (Ullrich e Bethlem), e DMCs com anormalidades de glicosilação da alfa-distroglicana (DMC Fukuyama, DMC "Muscle-eye-brain" ou MeB, síndrome de Walker Warburg, DMC tipo 1C, DMC tipo 1D). A DMC com espinha rígida, mais rara e não relacionada com alterações do complexo distrofina-glicoproteínas associadas-matriz extracelular também será abordada quanto aos mesmos aspectos patogênicos e terapêuticos.PAlAVrAs-ChAVes: distrofia muscular congênita, merosina, colágeno VI, glicosila...

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“…The mutation in the genes ACTA1 (22), SEPN1 (48) or TPM3 (23) express the morphological and histochemical alteration in CFTD (49). Since the first description of this disease, approximately 67 cases have been described (16), but just a few cases originally in Brazil (50).…”

Section: Applicability Of P-mfm In Family With Cftd Associated Musclmentioning

confidence: 99%

“…This condition could happen due to hypotrophy of type 1 fibres found in the respiratory muscles, including the diaphragm (14,16,20,22,48,49) or as a result of severe kyphoscoliosis, which progressively diminished lung capacity. Thus, it is important that patients be monitored for maintenance of a postural alignment and breathing function.…”

Section: Applicability Of P-mfm In Family With Cftd Associated Musclmentioning

confidence: 99%

Motor Function Measure Scale (MFM): New Instrument for Follow-Up Brazilian Patients with Neuromuscular Disease

Iwabe¹,

Nucci²,

Pfeilsticker³

et al. 2012

Muscular Dystrophy

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SEPN1: Associated with congenital fiber‐type disproportion and insulin resistance

Cited by 169 publications

References 15 publications

Further Delineation of the Phenotype of Congenital Disorder of Glycosylation DPAGT1-CDG (CDG-Ij) Identified by Homozygosity Mapping

Further Delineation of the Phenotype of Congenital Disorder of Glycosylation DPAGT1-CDG (CDG-Ij) Identified by Homozygosity Mapping

Congenital muscular dystrophy. Part II: a review of pathogenesis and therapeutic perspectives

Motor Function Measure Scale (MFM): New Instrument for Follow-Up Brazilian Patients with Neuromuscular Disease

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