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Rhabdomyolysis and metabolic muscle disorders v6.6 DYSF Achchuthan Shanmugasundram changed review comment from: PMID:17287450 (2007) reported two unrelated patuients, one with limb girdle weakness and the other with distal weakness, who presented with elecvated CK, patholgical MRI and reduced dysferlin expression in a muscle biopsy specimen. First patient was the sister of an autosomal recessive limb-girdle muscular dystrophy patient and patient 2 was the father of two offspring with Miyoshi myopathy. The two patients wer identified with variant in one allele (patient 1: p.Asp625Tyr; patient 2: p.Gly519Arg) of DYSF gene, whereas as family members with AR disease harboured compund heterozygous or homozygous variants.

PMID:21658164 (2011) reported two unrelated patients identified with a heterozygous variant in DYSF gene (p.Glu1763Asp). First patient had proximal weakness of the lower limbs and was unable to walk on her toes and heels since the age of 18 years and her brother had asymptomatic hyperCKemia. Second pateint, who was previolusly active in sports presented in late adolescence with distal myopathy. Both patients had high CK activity and electromyography showed myopathic changes. The parents of neither patients had muscle weakness. The variant was found in heterozygous state in mother, grandfather and brother of patient 1, while it is not detected in father of patient 2 and mother's DNA wasn't available.

PMID:29879922 (2018) reported a South African family of mixed descent in which all affetced first generation (G1) members presented with a predominant distal ‘posterior calf’ myopathy starting in early adulthood. Their offspring (G2) experienced severe unexpected symptoms of myalgia and cramps since adolescence. All affected G1 individuals were homozygous for a novel truncating p.Tyr1433Ter DYSF variant, with their asymptomatic sibling and pauci-symptomatic G2 offspring carrying only a single variant allele.

PMID:35962550 (2022) reported a large family with progressive muscular dystrophy and hyperCKaemia and was identified with a monoallelic novel DYSF variant (p.Tyr2070Metfs*4). Skeletal muscle involvement was milder and later onset than typical dysferlinopathy presentations; these clinical signs manifested in four individuals, all between the fourth and sixth decades of life. The study showed a consistent dysferlinopathy phenotype across three generations, with dystrophic muscle changes and fatty replacement, reduced dysferlin protein expression, but no evidence that the C‑terminal DYSF variant triggers mRNA decay.

Monoallelic DYSF variants are not yet associated with any phenotypes in OMIM.; to: PMID:17287450 (2007) reported two unrelated patuients, one with limb girdle weakness and the other with distal weakness, who presented with elecvated CK, patholgical MRI and reduced dysferlin expression in a muscle biopsy specimen. First patient was the sister of an autosomal recessive limb-girdle muscular dystrophy patient and patient 2 was the father of two offspring with Miyoshi myopathy. The two patients wer identified with variant in one allele (patient 1: p.Asp625Tyr; patient 2: p.Gly519Arg) of DYSF gene, whereas as family members with AR disease harboured compund heterozygous or homozygous variants.

PMID:21658164 (2011) reported two unrelated patients identified with a heterozygous variant in DYSF gene (p.Glu1763Asp). First patient had proximal weakness of the lower limbs and was unable to walk on her toes and heels since the age of 18 years and her brother had asymptomatic hyperCKemia. Second patient, who was previously active in sports presented in late adolescence with distal myopathy. Both patients had high CK activity and electromyography showed myopathic changes. The parents of neither patients had muscle weakness. The variant was found in heterozygous state in mother, grandfather and brother of patient 1, while it is not detected in father of patient 2 and mother's DNA wasn't available.

PMID:29879922 (2018) reported a South African family of mixed descent in which all affetced first generation (G1) members presented with a predominant distal ‘posterior calf’ myopathy starting in early adulthood. Their offspring (G2) experienced severe unexpected symptoms of myalgia and cramps since adolescence. All affected G1 individuals were homozygous for a novel truncating p.Tyr1433Ter DYSF variant, with their asymptomatic sibling and pauci-symptomatic G2 offspring carrying only a single variant allele.

PMID:35962550 (2022) reported a large family with progressive muscular dystrophy and hyperCKaemia and was identified with a monoallelic novel DYSF variant (p.Tyr2070Metfs*4). Skeletal muscle involvement was milder and later onset than typical dysferlinopathy presentations; these clinical signs manifested in four individuals, all between the fourth and sixth decades of life. The study showed a consistent dysferlinopathy phenotype across three generations, with dystrophic muscle changes and fatty replacement, reduced dysferlin protein expression, but no evidence that the C‑terminal DYSF variant triggers mRNA decay.

Monoallelic DYSF variants are not yet associated with any phenotypes in OMIM.
Rhabdomyolysis and metabolic muscle disorders v6.6 DYSF Achchuthan Shanmugasundram Added comment: Comment on mode of inheritance: There are at least 6 unrelated families with heterozygous carrier individuals presenting with a limb-girdle muscular dystrophy/ distal myopathy phenotype despite it being milder and later-onset than individuals with biallelic variants. There is also evidence of some heterozygous carriers from two of the families not displaying phenotype suggesting reduced penetrance.

As there are six unrelated families with monoalellic phenotype, the MOI should be updated to 'BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal' in the next GMS update.
Rhabdomyolysis and metabolic muscle disorders v6.6 DYSF Achchuthan Shanmugasundram Mode of inheritance for gene: DYSF was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Rhabdomyolysis and metabolic muscle disorders v6.5 DYSF Achchuthan Shanmugasundram Tag Q2_26_MOI tag was added to gene: DYSF.
Rhabdomyolysis and metabolic muscle disorders v6.5 DYSF Achchuthan Shanmugasundram commented on gene: DYSF: PMID:17287450 (2007) reported two unrelated patuients, one with limb girdle weakness and the other with distal weakness, who presented with elecvated CK, patholgical MRI and reduced dysferlin expression in a muscle biopsy specimen. First patient was the sister of an autosomal recessive limb-girdle muscular dystrophy patient and patient 2 was the father of two offspring with Miyoshi myopathy. The two patients wer identified with variant in one allele (patient 1: p.Asp625Tyr; patient 2: p.Gly519Arg) of DYSF gene, whereas as family members with AR disease harboured compund heterozygous or homozygous variants.

PMID:21658164 (2011) reported two unrelated patients identified with a heterozygous variant in DYSF gene (p.Glu1763Asp). First patient had proximal weakness of the lower limbs and was unable to walk on her toes and heels since the age of 18 years and her brother had asymptomatic hyperCKemia. Second pateint, who was previolusly active in sports presented in late adolescence with distal myopathy. Both patients had high CK activity and electromyography showed myopathic changes. The parents of neither patients had muscle weakness. The variant was found in heterozygous state in mother, grandfather and brother of patient 1, while it is not detected in father of patient 2 and mother's DNA wasn't available.

PMID:29879922 (2018) reported a South African family of mixed descent in which all affetced first generation (G1) members presented with a predominant distal ‘posterior calf’ myopathy starting in early adulthood. Their offspring (G2) experienced severe unexpected symptoms of myalgia and cramps since adolescence. All affected G1 individuals were homozygous for a novel truncating p.Tyr1433Ter DYSF variant, with their asymptomatic sibling and pauci-symptomatic G2 offspring carrying only a single variant allele.

PMID:35962550 (2022) reported a large family with progressive muscular dystrophy and hyperCKaemia and was identified with a monoallelic novel DYSF variant (p.Tyr2070Metfs*4). Skeletal muscle involvement was milder and later onset than typical dysferlinopathy presentations; these clinical signs manifested in four individuals, all between the fourth and sixth decades of life. The study showed a consistent dysferlinopathy phenotype across three generations, with dystrophic muscle changes and fatty replacement, reduced dysferlin protein expression, but no evidence that the C‑terminal DYSF variant triggers mRNA decay.

Monoallelic DYSF variants are not yet associated with any phenotypes in OMIM.
Rhabdomyolysis and metabolic muscle disorders v6.5 DYSF Achchuthan Shanmugasundram Publications for gene: DYSF were set to 25929793
Rhabdomyolysis and metabolic muscle disorders v6.4 DYSF Achchuthan Shanmugasundram Added comment: Comment on phenotypes: Biallelic variants in DYSF gene are associated with relevant phenotypes in OMIM (MIMs #253601, #254130 & #606768) and the records were last accessed 25 June 2026.

Biallelic DYSF variants are also associated with AR limb-girdle muscular dystrophy with 'Definitive' rating by the Muscular Dystrophies and Myopathies GCEP in ClinGen (https://search.clinicalgenome.org/CCID:004715).
Rhabdomyolysis and metabolic muscle disorders v6.4 DYSF Achchuthan Shanmugasundram Phenotypes for gene: DYSF were changed from Miyoshi muscular dystrophy 1, OMIM:254130; Muscular dystrophy, limb-girdle, autosomal recessive 2, OMIM:253601; Myopathy, distal, with anterior tibial onset, OMIM:606768 to Muscular dystrophy, limb-girdle, autosomal recessive 2, OMIM:253601; Miyoshi muscular dystrophy 1, OMIM:254130; Myopathy, distal, with anterior tibial onset, OMIM:606768
Rhabdomyolysis and metabolic muscle disorders v6.3 DYSF Achchuthan Shanmugasundram reviewed gene: DYSF: Rating: GREEN; Mode of pathogenicity: None; Publications: 17287450, 21658164, 29879922, 35962550; Phenotypes: Muscular dystrophy, limb-girdle, autosomal recessive 2, OMIM:253601, Miyoshi muscular dystrophy 1, OMIM:254130, Myopathy, distal, with anterior tibial onset, OMIM:606768; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Rhabdomyolysis and metabolic muscle disorders v1.67 DYSF Arina Puzriakova Phenotypes for gene: DYSF were changed from Miyoshi muscular dystrophy 1 254130; Muscular dystrophy, limb-girdle, type 2B 253601; Myopathy, distal, with anterior tibial onset 606768 to Miyoshi muscular dystrophy 1, OMIM:254130; Muscular dystrophy, limb-girdle, autosomal recessive 2, OMIM:253601; Myopathy, distal, with anterior tibial onset, OMIM:606768
Rhabdomyolysis and metabolic muscle disorders DYSF Sarah Leigh marked DYSF as ready
Rhabdomyolysis and metabolic muscle disorders DYSF Sarah Leigh added DYSF to panel
Rhabdomyolysis and metabolic muscle disorders DYSF Sarah Leigh reviewed DYSF