Searchable abstracts of presentations at key conferences in endocrinology

ea0011oc48 | Endocrine genetics | ECE2006

Progressive osseous heteroplasia: a phenotype associated with mutations of the GNAS1 gene

Richard N , Abeguile G , Kottler ML

Progressive osseous heteroplasia (POH, MIM 166350) is a rare autosomal dominant disorder characterised by extensive dermal ossification during childhood, followed by widespread heterotopic ossification of skeletal muscle and deep connective tissue. Recently, genetic basis was found to be common with Albright’s hereditary osteodystrophy (AHO) (Shore et al., 2002): paternally inherited inactivating mutations of the GNAS1 gene were found. GNAS1 is the ge...

ea0035p148 | Calcium and Vitamin D metabolism | ECE2014

Paternal isodisomy is a frequent cause of pseudohypoparathyroidism 1-b

Colson Cindy , Richard Nicolas , Decamp Mathieu , Abeguile Genevieve , Gruchy Nicolas , Kottler Marie-Laure

Patients affected by pseudohypoparathyroidism type 1b (PHP-1b) develop resistance to PTH leading to hypocalcemia and hyperphosphoremia, which is often associated with resistance to TSH. PHP-Ib is associated with methylation changes at one or several differentially methylated regions (DMRs) within the GNAS complex locus, located at 20q13.2–13.3. This locus gives rise to several different transcripts (NESP55, XL, A/B), with varying patterns of expression depending on the pa...

ea0022oc6.3 | Bone | ECE2010

Six novel mutations in 25-hydroxyvitamin D3 1α hydroxylase gene in patients with pseudovitamin D deficiency rickets

Abeguile Genevieve , Coudray Nadia , Richard Nicolas , Linglart Agnes , Kottler Marie-Laure

Pseudovitamin D deficiency rickets also called vitamin D-deficiency rickets type 1 (VDDR 1) is an autosomal recessive disorder in which 25-hydroxyvitamin D3 1 alpha-hydroxylase gene (CYP27B1) is deficient. VDDR1 is characterized by hypocalcemia,hypophosphatemia elevated serum PTH levels and low or undetectable serum concentrations of 1,25(OH)2D.We screened for mutations CYP27B1 in ten individuals from seven unrelated families wit...