Prenatal diagnosis of adrenoleukodystrophy by means of mutation analysis

Prenat Diagn. 1996 Mar;16(3):259-61. doi: 10.1002/(SICI)1097-0223(199603)16:3<259::AID-PD840>3.0.CO;2-E.


Prenatal diagnosis of adrenoleukodystrophy (ALD) was performed by means of genetic and biochemical analysis using chorionic villi and amniocytes. The mother was a carrier of an exonic point mutation in the ALD protein gene (2154 C to T) which resulted in the premature formation of a termination codon (Q590STOP) and deletes the Pst I site. Two patients in this family were hemizygotes for this mutation. Pst I digestion of cDNA from chorionic villi revealed that the fetus was a heterozygote for this mutation, and sex determination using the polymerase chain reaction (PCR) indicated female. Lignocerate oxidation in cultured amniocytes was slightly decreased. These findings suggest that the fetus is a female carrier of ALD, and the resultant baby was female.

MeSH terms

  • Adrenoleukodystrophy / diagnosis*
  • Adrenoleukodystrophy / genetics
  • Cells, Cultured
  • Chorionic Villi Sampling
  • Coenzyme A Ligases / metabolism
  • DNA, Complementary / analysis
  • Female
  • Heterozygote*
  • Humans
  • Male
  • Pedigree
  • Point Mutation
  • Polymerase Chain Reaction / methods
  • Pregnancy
  • Prenatal Diagnosis / methods*
  • RNA, Messenger / analysis
  • Sex Determination Analysis


  • DNA, Complementary
  • RNA, Messenger
  • Coenzyme A Ligases
  • lignoceroyl-CoA ligase