What causes POMT2-associated congenital muscular dystrophy (MDDGA2)?

Updated: Jul 03, 2019
  • Author: Emad R Noor, MBChB; Chief Editor: Amy Kao, MD  more...
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Answer

POMT2 mutations were first described in the Walker-Warburg syndrome. The gene codes for the glycotransferase O-Mannosyltransferase 2 that along with POMT1 catalyzes the first step of Ser/Thr O-mannosylation of α-dystroglycan.

POMT2 gene mutations have also been described in cases of muscle-eye-brain disease and in cases with a limb-girdle muscular dystrophy and mental retar dation, [22] as well as in LGMD 2N. [26]

The POMT2 glycotransferase is widely expressed and localizes to the endoplasmic reticulum.

Muscle tissue shows reduced α-dystroglycan staining.


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