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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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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)

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