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achondrogenesis type 1B

Friday 19 January 2007

Achondrogenesis type I (MIM.200600) is historically known as the Parenti-Fraccaro type achondrogenesis. Achondrogenesis type 1B is caused in mutation in the SLC26A2 (DTDST) gene, coding for the DTD sulfate transporter (MIM.606718).

Microscopical synopsis

- resting cartilage: matrix deficiency and perichondrocytic collagen rings which stain trichrome, silver methenamine and toluidine blue

Etiology

Achondrogenesis type 1B is caused in mutation in the SLC26A2 gene, coding for the DTD sulfate transporter (MIM.606718).

SLC26A2 is also mutated in diastrophic dysplasia (MIM.222600), atelosteogenesis type 2, multiple epiphyseal dysplasia type 4 (EDM4).

See also

- achondrogeneses

  • achondrogenesis type 2 (ACG2) (200610) is also known as the Langer-Saldino type achondrogenesis, caused by mutation in the type II collagen gene (MIM.120140)