Brachyolmia (BCYM) is a heterogeneous group of skeletal dysplasias that primarily affects the spine. To date, four types of brachyolmia are known. Mutations in the TRPV4, a calcium-permeable nonselective cation channel, have been identified in an autosomal dominant form of brachyolmia (BCYM3). And it has been reported that PAPSS2 mutations cause autosomal recessive brachyolmia (BCRM4).
Miyake N, Elcioglu NH, Iida A, Isguven P, Dai J, Murakami N, Takamura K, Cho TJ, Kim OH, Hasegawa T, Nagai T, Ohashi H, Nishimura G, Matsumoto N, Ikegawa S
タイトル
PAPSS2 mutations cause autosomal recessive brachyolmia.
