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Fragile X syndrome in two siblings with major congenital malformations by Giampietro, Philip F.; Haas, Bruce R.; Lipper, Evelyn; Gutman, Alyson; Zellers, Nancy J.; LaTrenta, Gregory S.; Brooks, Susan Sklower; Matalon, Reuben; Kaul, Rajinder; Ding, Xiao-Hua; Brown, W. Ted is a Biochemistry, Genetics and Molecular Biology article available to read on EtoBox.

What is Fragile X syndrome in two siblings with major congenital malformations about?

We report on 2 brothers with both fragile X and VACTERL-H syndrome. The first sibling, age 5, had bilateral cleft lip and palate, ventricular septal defect, and a hypoplastic thumb. The second sibling, age 2%, had a trachesophageal fistula, esophageal atresia, and vertebral abnormality. High-resolution chromosome analysis showed a 46, XY chromosome constitution in both siblings. By PCR and Southern blot analysis, the siblings were found to have large triplet repeat expansions in the fragile X gene (FMR 1) and both had methylation mosaicism. Enzyme kinetic studies of iduronate sulfatase demonstrated a two-fold increase in activity in the first sib as compared to the second. Possible mechanisms through which the fragile X mutation can cause down-regulation of adjacent loci are discussed.

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Author

Giampietro, Philip F.; Haas, Bruce R.; Lipper, Evelyn; Gutman, Alyson; Zellers, Nancy J.; LaTrenta, Gregory S.; Brooks, Susan Sklower; Matalon, Reuben; Kaul, Rajinder; Ding, Xiao-Hua; Brown, W. Ted

Publisher

John Wiley and Sons; Wiley (John Wiley & Sons); Wiley-Liss Inc; Wiley (ISSN 0148-7299)

Published

1996

Language

EN

Field

Biochemistry, Genetics and Molecular Biology (Life Sciences)