Mutation analysis of GLDC, AMT and GCSH in cataract captive-bred vervet monkeys (Chlorocebus aethiops).
Non-ketotic hyperglycinaemia (NKH) is an autosomal recessive inborn error of glycine metabolism characterized by accumulation of glycine in body fluids and various neurological symptoms.



This study describes the first screening of NKH in cataract captive-bred vervet monkeys (Chlorocebus aethiops). Glycine dehydrogenase (GLDC), aminomethyltransferase (AMT) and glycine cleavage system H protein (GCSH) were prioritized.



Mutation analysis of the complete coding sequence of GLDC and AMT revealed six novel single-base substitutions, of which three were non-synonymous missense and three were silent nucleotide changes.



Although deleterious effects of the three amino acid substitutions were not evaluated, one substitution of GLDC gene (S44R) could be disease-causing because of its drastic amino acid change, affecting amino acids conserved in different primate species. This study confirms the diagnosis of NKH for the first time in vervet monkeys with cataracts.
Primate Unit and Delft Animal Centre, South African Medical Research Council, Tygerberg, Cape Town, South Africa.
Chesa G
CG
Chauke
Primate Unit and Delft Animal Centre, South African Medical Research Council, Tygerberg, Cape Town, South Africa.|Medical Bioscience Department, University of the Western Cape, Bellville, South Africa.
Zandisiwe E
ZE
Magwebu
Biotechnology Department, University of the Western Cape, Bellville, South Africa.
Jyoti R
JR
Sharma
Biotechnology Department, University of the Western Cape, Bellville, South Africa.
Zainunisha
Z
Arieff
Primate Unit and Delft Animal Centre, South African Medical Research Council, Tygerberg, Cape Town, South Africa.
Jürgen V
JV
Seier
D000595:Amino Acid Sequence; D050960:Aminomethyltransferase / Q000737:chemistry / Q000235:genetics* / Q000378:metabolism; D000818:Animals; D002386:Cataract / Q000235:genetics / Q000662:veterinary*; D002522:Chlorocebus aethiops; D050961:Glycine Decarboxylase Complex H-Protein / Q000737:chemistry / Q000235:genetics* / Q000378:metabolism; D050789:Glycine Dehydrogenase / Q000737:chemistry / Q000235:genetics* / Q000378:metabolism; D020158:Hyperglycinemia, Nonketotic / Q000235:genetics / Q000662:veterinary*; D008992:Monkey Diseases / Q000235:genetics*; D020125:Mutation, Missense; D017354:Point Mutation
D050961:Glycine Decarboxylase Complex H-Protein; D050789:Glycine Dehydrogenase; D050960:Aminomethyltransferase
glycine cleavage system; non-ketotic hyperglycinaemia; sequencing analysis