IllnessDysferlinopathy, Differential diagnosis

Summary

Short information

Comprehensive differential diagnostic panel for Dysferlinopathia, differential diagnosis comprising 1 guideline-curated and altogether 39 curated genes according to the clinical signs

DP9254

Number of loci

Locus type	Count
Gen	12

Accredited laboratory test

Examined sequence length

6,3 kb (Core-/Core-canditate-Genes)
136,4 kb (Extended panel: incl. additional genes)

Analysis Duration

on request

Test material

EDTA-anticoagulated blood (3-5 ml)

Diagnostic indications

NGS +

Loci

Gen

Name	Exon Length (bp)	OMIM-G	Referenz-Seq.	Heredity
DYSF	6243	603009	NM_003494.4	AR
ANO5	2742	608662	NM_213599.3	AR
DMD	11058	300377	NM_004006.3	XLR
FKTN	1386	607440	NM_001079802.2	AR
GNE	2262	603824	NM_001128227.3	AR
LDB3	852	605906	NM_001080116.1	AD
MATR3	2544	164015	NM_199189.3	AD
MYH7	5808	160760	NM_000257.4	AD, AR
MYOT	1497	604103	NM_006790.3	AD
TCAP	504	604488	NM_003673.4	AR
TIA1	1161	603518	NM_022173.4	AD, AR
TTN	100272	188840	NM_001267550.2	AR

Informations about the disease

Clinical Comment

Dysferlinopathien umfassen ein Spektrum autosomal-rezessiv vererbter Muskelerkrankungen, die durch zwei Hauptphänotypen (Miyoshi-Muskeldystrophie [MMD] und Gliedergürtel-Muskeldystrophie Typ 2B [LGMD2B]) und zwei Nebenphänotypen (asymptomatische HyperCKämie und distale Myopathie mit anteriorem Tibia-Beginn [DMAT]) gekennzeichnet sind. Die Haupt- und Nebenphänotypen können innerhalb von Familien mit denselben pathogenen Varianten auftreten. Die Schwäche und Atrophie können bei jedem dieser Krankheitsbilder asymmetrisch sein. Die Diagnose einer Dysferlinopathie wird bei einem Probanden mit suggestiven Befunden und biallelischen pathogenen Varianten in DYSF gestellt, die durch molekulargenetische Tests identifiziert wurden. Differentialdiagnose: Die Dysferlinopathien müssen von anderen autosomal-rezessiven Gliedergürtel-Muskeldystrophien, den Dystrophinopathien und den distalen Myopathien unterschieden werden.

Literatur: https://www.ncbi.nlm.nih.gov/books/NBK1303/

Synonyms

Alias: Distale Myopathie des vorderen Kompartiments (DYSF)
Alias: Distale Myopathie mit Beginn am vorderen Schienenbein (DYSF)
Allelic: Bardet-Biedl syndrome 11 (TRIM32)
Allelic: Cardiomyopathy, dilated, 1C, with/-out LVNC (LDDB3)
Allelic: Cardiomyopathy, dilated, 1G (TTN)
Allelic: Cardiomyopathy, dilated, 1L (SGCD)
Allelic: Cardiomyopathy, dilated, 1S (MYH7)
Allelic: Cardiomyopathy, dilated, 1X (FKTN)
Allelic: Cardiomyopathy, dilated, 3B (DMD)
Allelic: Cardiomyopathy, familial hypertrophic, 9 (TTN)
Allelic: Cardiomyopathy, hypertrophic, 1 (MYH7)
Allelic: Cardiomyopathy, hypertrophic, 24 (LDB3)
Allelic: Cardiomyopathy, hypertrophic, 25 (TCAP)
Allelic: Dowling-Degos disease 4 (POGLUT1)
Allelic: Dystonia 27 (COL6A3)
Allelic: Epidermolysis bullosa simplex 5A, Ogna type (PLEC)
Allelic: Epidermolysis bullosa simplex 5B, with muscular dystrophy (PLEC)
Allelic: Epidermolysis bullosa simplex 5C, with pyloric atresia (PLEC)
Allelic: Epidermolysis bullosa simplex 5D, generalized intermediate, AR (PLEC)
Allelic: Epidermolysis bullosa simplex with muscular dystrophy (PLEC)
Allelic: Epidermolysis bullosa simplex with pyloric atresia (PLEC)
Allelic: Epidermolysis bullosa simplex, Ogna type (PLEC)
Allelic: Gnathodiaphyseal dysplasia (ANO5)
Allelic: Left ventricular noncompaction 3 (LDB3)
Allelic: Left ventricular noncompaction 5 (MYH7)
Allelic: Miyoshi muscular dystrophy 1 (DYSF)
Allelic: Miyoshi muscular dystrophy 3 (ANO5)
Allelic: Miyoshi-Myopathie [Schwäche hinteres Kompartiment distale untere Extremität] (DYSF)
Allelic: Muscular dystrophy, limb-girdle, AD 4 (CAPN3)
Allelic: Muscular dystrophy, limb-girdle, AR 10 (TTN)
Allelic: Muscular dystrophy, limb-girdle, AR 2 (DYSF)
Allelic: Muscular dystrophy-dystroglycanopathy cong. with brain + eye anomalies type A, 1 (POMT1)
Allelic: Muscular dystrophy-dystroglycanopathy cong. with brain + eye anomalies type A, 2 (POMT2)
Allelic: Muscular dystrophy-dystroglycanopathy cong. with brain + eye anomalies, type A, 3 (POMGNT1)
Allelic: Muscular dystrophy-dystroglycanopathy cong. with brain + eye anomalies, type A, 5 (FKRP)
Allelic: Muscular dystrophy-dystroglycanopathy cong. with brain + eye anomalies, type A, 7 (CRPPA)
Allelic: Muscular dystrophy-dystroglycanopathy cong. with brain + eye anomalies, type A, 8 (POMGNT2)
Allelic: Muscular dystrophy-dystroglycanopathy cong. with mental retard. type B, 1 (POMT1)
Allelic: Muscular dystrophy-dystroglycanopathy cong. with mental retard. type B, 2 (POMT2)
Allelic: Muscular dystrophy-dystroglycanopathy cong. with mental retard. type B, 3 (POMGNT1)
Allelic: Muscular dystrophy-dystroglycanopathy cong. with/-out mental retard. type B, 5 (FKRP)
Allelic: Muscular dystrophy-dystroglycanopathy with brain + eye anomalies (FKTN)
Allelic: Muscular dystrophy-dystroglycanopathy without mental retardation (FKTN)
Allelic: Myopathy, distal, with anterior tibial onset (DYSF)
Allelic: Myopathy, myofibrillar, 9, with early respiratory failure (TTN)
Allelic: Myosclerosis, congenital (COL6A2)
Allelic: Retinitis pigmentosa 76 (POMGNT1)
Allelic: Sialuria (GNE)
Allelic: Tibial muscular dystrophy, tardive (TTN)
Amyotrophic lateral sclerosis 21 (MATR3)
Amyotrophic lateral sclerosis 26 with/-out frontotemporal dementia (TIA1)
Becker muscular dystrophy (DMD)
Bethlem myopathy 1 (COL6A1, COL6A2, COL6A3)
Duchenne muscular dystrophy (DMD)
Laing distal myopathy (MYH7)
Miyoshi muscular dystrophy 1 (DYSF)
Miyoshi muscular dystrophy 3 (ANO5)
Muscular dystrophy, AR, with cardiomyopathy + triangular tongue (LIMS2)
Muscular dystrophy, AR, with rigid spine + distal joint contractures (TORAIP1)
Muscular dystrophy, limb girdle, "LGMD2T" (DOK7)
Muscular dystrophy, limb-girdle, AD 4 (CAPN3)
Muscular dystrophy, limb-girdle, AR 1 (CAPN3)
Muscular dystrophy, limb-girdle, AR 10 (TTN)
Muscular dystrophy, limb-girdle, AR 12 (ANO5)
Muscular dystrophy, limb-girdle, AR 17 (PLEC)
Muscular dystrophy, limb-girdle, AR 18 (TRAPPC11)
Muscular dystrophy, limb-girdle, AR 2 (DYSF)
Muscular dystrophy, limb-girdle, AR 21 (POGLUT1)
Muscular dystrophy, limb-girdle, AR 23 (LAMA2)
Muscular dystrophy, limb-girdle, AR 25 (BVES)
Muscular dystrophy, limb-girdle, AR 26 (POPDC3)
Muscular dystrophy, limb-girdle, AR 27 (JAG2)
Muscular dystrophy, limb-girdle, AR 3 (SGCA)
Muscular dystrophy, limb-girdle, AR 4 (SGCB)
Muscular dystrophy, limb-girdle, AR 5 (SGCG)
Muscular dystrophy, limb-girdle, AR 6 (SGCD)
Muscular dystrophy, limb-girdle, AR 7 (TCAP)
Muscular dystrophy, limb-girdle, AR 8 (TRIM32)
Muscular dystrophy-dystroglycanopathy limb-girdle type C, 1 (POMT1)
Muscular dystrophy-dystroglycanopathy limb-girdle type C, 2 (POMT2)
Muscular dystrophy-dystroglycanopathy limb-girdle type C, 3 (POMGNT1)
Muscular dystrophy-dystroglycanopathy limb-girdle type C, 4 (FKTN)
Muscular dystrophy-dystroglycanopathy limb-girdle type C, 5 (FKRP)
Muscular dystrophy-dystroglycanopathy limb-girdle type C, 7 (ISPD)
Muscular dystrophy-dystroglycanopathy limb-girdle type C, 8 (POMGNT2)
Muscular dystrophy-dystroglycanopathy limb-girdle, type C, 5 (FKRP)
Muscular dystrophy-dystroglycanopathy, cong. with brain + eye anomalies, type A, 14 (GMPPB)
Muscular dystrophy-dystroglycanopathy, cong. with brain + eye anomalies, type A, 5 (FKRP)
Muscular dystrophy-dystroglycanopathy, cong. with brain + eye anomalies, type A, 7 (CRPPA)
Muscular dystrophy-dystroglycanopathy, cong. with brain + eye anomalies, type A, 9 (DAG1)
Muscular dystrophy-dystroglycanopathy, cong. with mental retardation, type B, 14 (GMPPB)
Muscular dystrophy-dystroglycanopathy, cong. with/-out mental retardation, type B, 5 (FKRP)
Muscular dystrophy-dystroglycanopathy, limb-girdle, type C, 14 (GMPPB)
Muscular dystrophy-dystroglycanopathy, limb-girdle, type C, 7 (CRPPA)
Muscular dystrophy-dystroglycanopathy, limb-girdle, type C, 9 (DAG1)
Myopathy, distal, with anterior tibial onset (DYSF)
Myopathy, myofibrillar, 3 (MYOT)
Myopathy, myofibrillar, 4 (LDB3)
Myopathy, myofibrillar, 8 (PYROXD1)
Myopathy, myofibrillar, 9, with early respiratory failure (TTN)
Myopathy, myosin storage, AD + AR (MYH7)
Myopathy, spheroid body (MYOT)
Nonaka myopathy (GNE)
Salih myopathy (TTN)
Scapuloperoneal syndrome, myopathic type (MYH7)
Tibial muscular dystrophy, tardive (TTN)
Ullrich congenital muscular dystrophy 1 (COL6A1, COL6A2, COL6A3)
Welander distal myopathy (TIA1)

Heredity, heredity patterns etc.

OMIM-Ps

Multiple OMIM-Ps

ICD10 Code

Bioinformatics and clinical interpretation

No text defined