TY - JOUR
T1 - Maternal uniparental isodisomy is responsible for serious molybdenum cofactor deficiency
AU - Gumus, Hakan
AU - Ghesquiere, Stijn
AU - Per, Hueseyin
AU - Kondolot, Meda
AU - Ichida, Kimiyoshi
AU - Poyrazoglu, Gamze
AU - Kumandas, Sefer
AU - Engelen, John
AU - Dundar, Munis
AU - Caglayan, Ahmet Okay
PY - 2010/9
Y1 - 2010/9
N2 - Molybdenum cofactor (MoCo) deficiency is a rare autosomal recessive inherited metabolic disorder resulting in the combined deficiency of aldehyde oxidase, xanthine dehydrogenase, and sulfite oxidase. We report a male infant with MoCo deficiency whose clinical findings consisted of microcephaly, intractable seizures soon after birth, feeding difficulties, and developmental delay. Sequencing of MOCS1, MOCS2, and GEPH genes, and single nucleotide polymorphism genotyping array analysis showed, to our knowledge, unusual inheritance of MoCo deficiency/maternal uniparental isodisomy for the first time in the literature. At 10 months of age, he now has microcephaly and developmental delay, and his seizures are controlled with phenobarbital, clonozepam, and vigabatrin therapy.
AB - Molybdenum cofactor (MoCo) deficiency is a rare autosomal recessive inherited metabolic disorder resulting in the combined deficiency of aldehyde oxidase, xanthine dehydrogenase, and sulfite oxidase. We report a male infant with MoCo deficiency whose clinical findings consisted of microcephaly, intractable seizures soon after birth, feeding difficulties, and developmental delay. Sequencing of MOCS1, MOCS2, and GEPH genes, and single nucleotide polymorphism genotyping array analysis showed, to our knowledge, unusual inheritance of MoCo deficiency/maternal uniparental isodisomy for the first time in the literature. At 10 months of age, he now has microcephaly and developmental delay, and his seizures are controlled with phenobarbital, clonozepam, and vigabatrin therapy.
U2 - 10.1111/j.1469-8749.2010.03724.x
DO - 10.1111/j.1469-8749.2010.03724.x
M3 - Article
C2 - 20573177
SN - 0012-1622
VL - 52
SP - 868
EP - 872
JO - Developmental Medicine and Child Neurology
JF - Developmental Medicine and Child Neurology
IS - 9
ER -