Novel assay for Roberts syndrome assigns variable phenotypes to one complementation group

Lisa D. McDaniel, Robyn Prueitt, Lori C. Probst, Kathleen S. Wilson, Darrell Tomkins, Golder N. Wilson, Roger A. Schultz

Research output: Contribution to journalArticle

15 Scopus citations

Abstract

Roberts syndrome (RS) is a rare autosomal recessive disorder characterized by heterogeneous clinical features, the most notable being tetraphocomelia, cleft lip, and cleft palate. Cells derived from most RS patients exhibit abnormal cytogenetic and cellular phenotypes that include the premature separation of para- and pericentromeric heterochromatin visible on C-banded metaphase chromosomes, a phenomenon referred to as heterochromatic splaying. Previously, it was shown that these abnormal phenotypes can be complemented following somatic cell hybridization between RS cells and control cells. In the current study, a permanent cell line was established from a new RS patient with a more severe phenotype than represented by previously established cells in culture. With a newly developed assay designed to facilitate rapid evaluation of in vitro complementation, we assigned this new patient to the same genetic complementation group defined by other, less severely affected patients. The results demonstrate that a single complementation group defines RS patients with heterochromatic splaying regardless of clinical severity. (C) 2000 Wiley-Liss, Inc.

Original languageEnglish (US)
Pages (from-to)223-229
Number of pages7
JournalAmerican Journal of Medical Genetics
Volume93
Issue number3
DOIs
StatePublished - Jun 12 2000

Keywords

  • Cell fusion
  • Clinical variation
  • Developmental abnormalities
  • Genetic complementation
  • Heterochromatin
  • Roberts syndrome

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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