0000000000901885
AUTHOR
Regina C. Betz
Genome-Wide Linkage Scan in a Moroccan Family With Autosomal-Recessive Exstrophy of the Bladder Identifies a Novel Susceptibility Locus on Chromosome 3p25.3
Purpose Exstrophy of the bladder (EB) is part of the bladder exstrophy-epispadias complex (BEEC) representing a spectrum of urogenital anomalies in which part or all of the distal urinary tract fail to close and are exposed on the outer abdominal wall. Familial occurrence is rare and previous studies are suggestive of an underlying multifactorial mode of inheritance. However, no causally related genetic or non-genetic factor has been identified so far. In this study, we aim to identify potential risk/modifying loci that might contribute to EB. Material and Methods A genome-wide linkage scan was performed in a consanguineous kindred of Moroccan origin where three affected males showed the sa…
Homozygous mutations incaveolin-3cause a severe form of rippling muscle disease
Heterozygous missense mutations in the caveolin-3 gene (CAV3) cause different muscle disorders. Most patients with CAV3 alterations present with rippling muscle disease (RMD) characterized by signs of increased muscle irritability without muscle weakness. In some patients, CAV3 mutations underlie the progressive limb-girdle muscular dystrophy type 1C (LGMD1C). Here, we report two unrelated patients with novel homozygous mutations (L86P and A92T) in CAV3. Both presented with a more severe clinical phenotype than usually seen in RMD. Immunohistochemical and immunoblot analyses of muscle biopsies showed a strong reduction of caveolin-3 in both homozygous RMD patients similar to the findings in…