Mutations in GMPPA cause a glycosylation disorder characterized by intellectual disability and autonomic dysfunction.

@article{Khler2013MutationsIG,
  title={Mutations in GMPPA cause a glycosylation disorder characterized by intellectual disability and autonomic dysfunction.},
  author={Katrin K{\"o}hler and Meera Malik and Saqib Mahmood and Sebastian Giesselmann and Christian Beetz and J. Christopher Hennings and Antje K. Huebner and Ammi Grahn and Janine Reunert and G. G. V. Nuernberg and Holger Thiele and Janine Altm{\"u}ller and Peter N{\"u}rnberg and Rizwan Mumtaz and Dusica Babovic-Vuksanovic and Lina Basel-Vanagaite and Guntram Borck and J{\"u}rgen Br{\"a}mswig and Reinhard M{\"u}hlenberg and Pierre Sarda and Alma Sikiric and Kwame Anyane-Yeboa and Avraham Zeharia and Arsalan Ahmad and Christine Coubes and Yoshinao Wada and Thorsten Marquardt and Dieter Vanderschaeghe and Emile van Schaftingen and Ingo Kurth and Angela Huebner and Christian Andreas H{\"u}bner},
  journal={American journal of human genetics},
  year={2013},
  volume={93 4},
  pages={
          727-34
        }
}
In guanosine diphosphate (GDP)-mannose pyrophosphorylase A (GMPPA), we identified a homozygous nonsense mutation that segregated with achalasia and alacrima, delayed developmental milestones, and gait abnormalities in a consanguineous Pakistani pedigree. Mutations in GMPPA were subsequently found in ten additional individuals from eight independent families affected by the combination of achalasia, alacrima, and neurological deficits. This autosomal-recessive disorder shows many similarities… CONTINUE READING
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