Details

Autor(en) / Beteiligte

• Wong, Felix Chi Kin
• Wong, Wai Sheung
• Kwok, Jeffrey Sung Shing
• Tsui, Teresa Kam Chi
• Lau, Kam Piu
• Chan, Michael Ho Ming
• Yuen, Yuet Ping

Titel

A Hong Kong Chinese kindred with familial hypocalciuric hypercalcaemia caused by AP2S1 mutation [version 1; peer review: 1 approved, 2 approved with reservations]

Ist Teil von

• F1000 research, 2019, Vol.8, p.1612-1612

Ort / Verlag

England: Faculty of 1000 Ltd

Erscheinungsjahr

2019

Link zum Volltext

Quelle

EZB Electronic Journals Library

Beschreibungen/Notizen

• Familial hypocalciuric hypercalcaemia (FHH) is a genetic disorder of altered calcium homeostasis. Mutations in the CASR, GNA11 and AP2S1 genes have been reported to cause FHH. We report a Hong Kong Chinese kindred with FHH type 3 (FHH3) caused by mutations in AP2S1. The proband, a 51-year-old woman with hypercalcaemia, was initially diagnosed to have primary hyperparathyroidism but repeated parathyroidectomy failed to normalize her plasma calcium concentrations. Later, FHH was suspected and yet no mutations were identified in the CASR gene which causes FHH type 1 (FHH1), the most common form of FHH. Genetic testing of AP2S1 revealed a heterozygous c.43C>T (p.Arg15Cys) mutation, confirming the diagnosis of FHH3. The elder brother and niece of the proband, who both have hypercalcaemia, were found to harbour the same mutation. To our knowledge, this is the first Chinese kindred of FHH3 reported in the English literature.