Publications by authors named "O Brandau"
Partial deletions at chromosome 7q11.23 are causative for the autosomal-dominant Williams-Beuren syndrome (WBS), whereas the partial duplication of this region leads to the 7q11.23 duplication syndrome.
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- * Mutations in three specific genes (KYNU, HAAO, and NADSYN1) that are responsible for NAD synthesis lead to Congenital NAD Deficiency Disorder, causing multiple malformations, especially in the heart, kidneys, vertebrae, and limbs.
- * Recent findings identify missense mutations that hinder enzyme function, resulting in significant NAD reduction, thereby linking these genetic variants directly to congenital malformations and expanding the understanding of this disorder.
Biallelic pathogenic variants in POC1A are ultra rare. They have been reported in 13 families as causing either Short stature, Onychodysplasia, Facial dysmorphism, and hypoTrichosis (SOFT) syndrome, or a milder partially overlapping phenotype, variant POC1A-related syndrome. This pleiotropic effect is likely precipitated by the variant's location and respective affected protein domain.
View Article and Find Full Text PDFConradi-Hünermann-Happle syndrome is a rare X-linked dominant syndrome affecting the skin, skeletal system, and eyes. Here, we report on a female patient with a de novo heterozygous missense mutation c.301C>T (p.
View Article and Find Full Text PDFAutosomal Dominant Polycystic Kidney Disease (ADPKD) accounts for 2.6% of the patients with chronic kidney disease in India. ADPKD is caused by pathogenic variants in either PKD1 or PKD2 gene.
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