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 journalArticle

11 Citations (Scopus)

Abstract

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
Volume67
Issue number3
DOIs
StatePublished - 2000

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Chromosomes, Human, Pair 1
Parents
Mothers
Gene Deletion
Meiosis
Alleles
Fertilization
Microsatellite Repeats
Oocytes
Sequence Analysis
Spermatozoa
Chromosomes
Mutation
Type 2 Maple syrup urine disease

ASJC Scopus subject areas

  • Genetics

Cite this

Lebo, R. V., Shapiro, L. R., Fenerci, E. Y., Hoover, J. M., Chuang, J. L., Chuang, D. T., & Kronn, D. F. (2000). Rare etiology of autosomal recessive disease in a child with noncarrier parents. American Journal of Human Genetics, 67(3), 750-754. https://doi.org/10.1086/303042

Rare etiology of autosomal recessive disease in a child with noncarrier parents. / Lebo, R. V.; Shapiro, L. R.; Fenerci, E. Y.; Hoover, J. M.; Chuang, J. L.; Chuang, D. T.; Kronn, D. F.

In: American Journal of Human Genetics, Vol. 67, No. 3, 2000, p. 750-754.

Research output: Contribution to journalArticle

Lebo, RV, Shapiro, LR, Fenerci, EY, Hoover, JM, Chuang, JL, Chuang, DT & Kronn, DF 2000, 'Rare etiology of autosomal recessive disease in a child with noncarrier parents', American Journal of Human Genetics, vol. 67, no. 3, pp. 750-754. https://doi.org/10.1086/303042
Lebo, R. V. ; Shapiro, L. R. ; Fenerci, E. Y. ; Hoover, J. M. ; Chuang, J. L. ; Chuang, D. T. ; Kronn, D. F. / Rare etiology of autosomal recessive disease in a child with noncarrier parents. In: American Journal of Human Genetics. 2000 ; Vol. 67, No. 3. pp. 750-754.
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