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ea0016p117 | Clinical cases | ECE2008

Simultaneous detection of a heterozygous deletion in the STX16 gene and loss of methylation at GNAS1A by methylation-specific MLPA in two patients with pseudohypoparathyroidism type 1b (PHP 1b)

Clausmeyer Susanne , Perschon Gerd , Nygren Anders , Schulze Egbert , Raue Friedhelm

The GNAS locus (chromosome 20q13) yields multiple transcripts, including the stimulatory G protein subunit α (Gsα), NESP55, GsαXL and two noncoding RNAs, the GNAS1A-transcript (A/B) and the antisense transcript (AS). The corresponding promoters show a complex methylation pattern resulting in an allele-specific imprinting, with maternal expression of NESP55 and paternal expression of GNAS1A, GsαXL and AS. Gsα in most tissues is derived from both alleles...

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ea0016p585 | Paediatric endocrinology | ECE2008

Autosomal dominant hypophosphatemic rickets (ADHR) due to a novel mutation in the FGF23 gene

Clausmeyer Susanne , Jacobi Christoph , Haffner Karsten , Pohl Martin , Schulze Egbert , Raue Friedhelm

Two dominant inherited disorders of phosphate homeostasis, X-linked hypophosphatemia (XLH), and ADHR are known to be caused by inactivating mutations in the PHEX gene or activating mutations in the FGF23 gene (fibroblast growth factor 23), respectively. Both diseases show a similar phenotype with renal phosphate wasting and inappropriately normal or low 1,25-(OH)2-Vitamin D3 serum levels, leading to hypophosphatemic rickets and osteomalacia. The different...

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Endocrine Abstracts

Simultaneous detection of a heterozygous deletion in the STX16 gene and loss of methylation at GNAS1A by methylation-specific MLPA in two patients with pseudohypoparathyroidism type 1b (PHP 1b)

Autosomal dominant hypophosphatemic rickets (ADHR) due to a novel mutation in the FGF23 gene

BiosciAbstracts