Rare etiology of autosomal recessive disease in a child with noncarrier parents

R. V. Lebo, L. R. Shapiro, E. Y. Fenerci, J. M. Hoover, J. L. Chuang, D. T. Chuang, D. F. Kronn

Research output: Contribution to journalArticlepeer-review

1 Scopus citations


A child with maple syrup urine disease type 2 (MSUD2) was found to be homozygous for a 10-bp MSUD2-gene deletion on chromosome 1. Both purported parents were tested, and neither carries the gene deletion. Polymorphic simple-sequence repeat analyses at 15 loci on chromosome 1 and at 16 loci on other chromosomes confirmed parentage and revealed that a de novo mutation prior to maternal meiosis I, followed by nondisjunction in maternal meiosis II, resulted in an oocyte with two copies of the de novo mutant allele. Fertilization by a sperm that did not carry a paternal chromosome 1 or subsequent mitotic loss of the paternal chromosome 1 resulted in the propositus inheriting two mutant MSUD2 alleles on two maternal number 1 chromosomes.

Original languageEnglish (US)
Pages (from-to)750-754
Number of pages5
JournalAmerican Journal of Human Genetics
Issue number3
StatePublished - 2000

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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