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

Citations Over Time

Abstract

The molecular cause of the alpha-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.

Related Papers

• → Documenting the course of loss of control over eating prior to, during and after pregnancy among women with pre‐pregnancy overweight and obesity(2020)21 cited
• → Effects of 14 F9 synonymous codon variants on hemophilia B expression: Alteration of splicing along with protein expression(2022)13 cited
• → The temporal landscape of recursive splicing during Pol II transcription elongation in human cells(2018)23 cited
• → Utilization of drugs with pregnancy exposure registries during pregnancy(2018)12 cited
• → In Vivo Analysis of Splicing Assays(2012)1 cited