Prenatal diagnosis of ATR-X syndrome in a fetus with a new G > T splicing mutation in the XNP/ATR-X gene

Marco Fichera, Margherita Silengo, Angela Spalletta, Mariangela Lo Giudice, Corrado Romano, Angela Ragusa

Research output: Contribution to journalArticlepeer-review


The molecular cause of the α-thalassemia/mental retardation syndrome (ATR-X) resides in mutations affecting the XNP/ATR-X gene. Recently molecular defects in the gene have been found in singular cases of a discrete number of X-linked mental retardation (XLMR). ATR-X-affected males are characterised by severe mental retardation, distinct facial dysmorphisms and genital abnormalities, besides a wide spectrum of pathological features and an extremely limited biological fitness. Given that molecular investigation of XNP/ATR-X mutations is made onerous by the length of the gene transcript, we carried out a prenatal diagnosis in a fetus at risk for ATR-X syndrome by initially determining the XNP/ATR-X gene haplotype before considering gene sequencing. Disease-associated haplotype analysis was performed selecting five genic (CA) n repeats that showed high heterozygosity (Het>0.7) in the general population. The fetus segregated an identical allelic pattern to that of the affected child of the family under investigation who shows features suggestive of the ATR-X syndrome. Subsequent mutational analysis of the gene revealed a novel IVS3+1G>T splicing mutation confirming the diagnosis.

Original languageEnglish
Pages (from-to)747-751
Number of pages5
JournalPrenatal Diagnosis
Issue number9
Publication statusPublished - 2001


  • ATR-X syndrome
  • Disease-associated haplotype
  • Prenatal diagnosis
  • XNP/ATR-X gene

ASJC Scopus subject areas

  • Genetics(clinical)
  • Obstetrics and Gynaecology


Dive into the research topics of 'Prenatal diagnosis of ATR-X syndrome in a fetus with a new G > T splicing mutation in the XNP/ATR-X gene'. Together they form a unique fingerprint.

Cite this