Severe Glomerular Endothelial Injury Associated with a Short D4Z4 Repeat on Chromosome 4q35
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منابع مشابه
Severe Glomerular Endothelial Injury Associated with a Short D4Z4 Repeat on Chromosome 4q35
The short D4Z4 repeat on chromosome 4q35 is a confirmatory genetic cause of facioscapulohumeral muscular dystrophy (FSHD), which presents with no renal complications. We herein report a five-year-old girl previously diagnosed with Coat's-like retinopathy, deafness, and mental retardation, who was found to have early-onset, severe FSHD. Despite the absence of muscle weakness, a Southern blot ana...
متن کاملdetermination of contraction of d4z4 repeats on chromosome 4q35 in iranian facioscapulohumeral muscular dystrophy patients
facioscapulohumeral muscular dystrophy (fshd)is characterized by weakness of the facial, scapular muscles and the dorsiflexors of the foot. severity in this disorder is highly variable. approximately 95% of individuals with fshd phenotype have type 1 fshd, with d4z4 allele of between one and ten repeat units and about 5% have type 2 fshd with mutations in the chromatin modifier smchd1gene whic...
متن کاملDysregulation of 4q35- and muscle-specific genes in fetuses with a short D4Z4 array linked to facio-scapulo-humeral dystrophy.
Facio-scapulo-humeral dystrophy (FSHD) results from deletions in the subtelomeric macrosatellite D4Z4 array on the 4q35 region. Upregulation of the DUX4 retrogene from the last D4Z4 repeated unit is thought to underlie FSHD pathophysiology. However, no one knows what triggers muscle defect and when alteration arises. To gain further insights into the molecular mechanisms of the disease, we eval...
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The microvascular endothelium of the kidney glomerulus is injured in Shiga-like toxigenic bacterial infection, genetic or acquired loss of complement regulatory protein function, and allo-immune responses of solid-organ or bone marrow transplantation. Existing models of diseases with glomerular endothelial cell (EC) injury, collectively grouped as thrombotic microangiopathies, are problematic, ...
متن کاملSevere Anomalies Associated With Ring Chromosome
Seven previous cases of ring chromosome 7 (r(7)) have been reported in association with minor anomalies with and without mental retardation [Zackai and Breg, 1973; Nakano and Miyamoto, 1977; DeLozier et al., 1982; Barros et al., 1986; Kohyama et al., 1988; Koiffmann et al., 19901. All of the reported patients had evidence of mosaicism with the r(7) line predominating and low frequencies of doub...
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ژورنال
عنوان ژورنال: Internal Medicine
سال: 2017
ISSN: 0918-2918,1349-7235
DOI: 10.2169/internalmedicine.56.7441