Prenatal diagnosis of Sjögren‐Larsson syndrome using enzymatic methods

William B. Rizzo, Debra A. Craft, Todd L. Kelson, Jean‐Paul ‐P Bonnefont, Jean‐Marie ‐M Saudubray, Joseph D. Schulman, Susan H. Black, Khalil Tabsh, Maja Dirocco, R. J.Mc Kinlay Gardner

Research output: Contribution to journalArticlepeer-review

29 Scopus citations


Sjögren—Larsson syndrome (SLS) is an autosomal recessive disorder characterized by the presence of congenital ichthyosis, mental retardation, and spasticity. The primary biochemical defect in SLS has recently been identified to be a deficiency of fatty aldehyde dehydrogenase (FALDH), which is a component of fatty alcohol:NAD+ oxidoreductase (FAO). We monitored four pregnancies at risk for SLS by measuring FAO and FALDH in cultured amniocytes or cultured chorionic villus cells. The enzymatic results in one case using amniocytes obtained during the second trimester predicted an affected SLS fetus, which was confirmed at termination of the pregnancy. Another at‐risk fetus was predicted to be affected with SLS using cultured chorionic villus cells obtained in the first trimester, and fetal skin fibroblasts confirmed a profound deficiency of FAO and FALDH. Two other fetuses were correctly predicted to be unaffected. These results demonstrate that SLS can be diagnosed prenatally using enzymatic methods.

Original languageEnglish (US)
Pages (from-to)577-581
Number of pages5
JournalPrenatal Diagnosis
Issue number7
StatePublished - Jul 1994
Externally publishedYes


  • Ichthyosis
  • genetic disease
  • mental retardation
  • prenatal diagnosis

ASJC Scopus subject areas

  • Obstetrics and Gynecology
  • Genetics(clinical)

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