TY  - JOUR
A1  - Girschick, Hermann
A1  - Wolf, Christine
A1  - Morbach, Henner
A1  - Hertzberg, Christoph
A1  - Lee-Kirsch, Min Ae
T1  - Severe immune dysregulation with neurological impairment and minor bone changes in a child with spondyloenchondrodysplasia due to two novel mutations in the ACP5 gene
JF  - Pediatric Rheumatology
N2  - Spondyloenchondrodysplasia (SPENCD) is a rare skeletal dysplasia, characterized by metaphyseal lesions, neurological impairment and immune dysregulation associated with lupus-like features. SPENCD is caused by biallelic mutations in the ACP5 gene encoding tartrate-resistant phosphatase. We report on a child, who presented with spasticity, multisystem inflammation, autoimmunity and immunodeficiency with minimal metaphyseal changes due to compound heterozygosity for two novel ACP5 mutations. These findings extend the phenotypic spectrum of SPENCD and indicate that ACP5 mutations can cause severe immune dysregulation and neurological impairment even in the absence of metaphyseal dysplasia.
KW  - resistant acid phosphatase
KW  - expression
KW  - systemic lupus erythematosus
KW  - cerebral calcification
KW  - deficiency
KW  - autoimmunity
KW  - dysplasia
KW  - trap
KW  - spondyloenchondrodysplasia
KW  - ACP5
KW  - immunodeficiency
KW  - type I interferonopathy
Y1  - 2015
U6  - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:bvb:20-opus-149990
VL  - 13
IS  - 37
ER  - 
TY  - JOUR
A1  - Petersen, Jens A.
A1  - Kuntzer, Thierry
A1  - Fischer, Dirk
A1  - von der Hagen, Maja
A1  - Veronika, Angela
A1  - Lobrinus, Johannes A.
A1  - Kress, Wolfram
A1  - Rushing, Elisabeth J.
A1  - Sinnreich, Michael
A1  - Jung, Hans H.
T1  - Dysferlinopathy in Switzerland: clinical phenotypes and potential founder effects
JF  - BMC Neurology
N2  - Background: Dysferlin is reduced in patients with limb girdle muscular dystrophy type 2B, Miyoshi myopathy, distal anterior compartment myopathy, and in certain Ethnic clusters. Methods: We evaluated clinical and genetic patient data from three different Swiss Neuromuscular Centers. 
Results: Thirteen patients from 6 non-related families were included. Age of onset was 18.8 +/- 4.3 years. In all patients, diallelic disease-causing mutations were identified in the DYSF gene. Nine patients from 3 non-related families from Central Switzerland carried the identical homozygous mutation, c.3031 + 2T>C. A possible founder effect was confirmed by haplotype analysis. Three patients from two different families carried the heterozygous mutation, c.1064_1065delAA. Two novel mutations were identified (c.2869C>T (p.Gln957Stop), c.5928G>A (p.Trp1976Stop)). 
Conclusions: Our study confirms the phenotypic heterogeneity associated with DYSF mutations. Two mutations (c.3031 + 2T>C, c.1064_1065delAA) appear common in Switzerland. Haplotype analysis performed on one case (c.3031 + 2T>C) suggested a possible founder effect.
KW  - gene mutations
KW  - miyoshi myopathy
KW  - gridle muscular-dystrophy
KW  - features
KW  - deficiency
KW  - heterogeneity
KW  - 2B
KW  - italian patients
KW  - molecular analysis
KW  - membrane repair
Y1  - 2015
U6  - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:bvb:20-opus-139920
VL  - 15
IS  - 182
ER  -