TY - JOUR
T1 - Mucopolysaccharidosis type II in a female patient with a reciprocal X;9 translocation and skewed X chromosome inactivation
AU - Lonardo, Fortunato
AU - Di Natale, Paola
AU - Lualdi, Susanna
AU - Acquaviva, Fabio
AU - Cuoco, Cristina
AU - Scarano, Francesca
AU - Maioli, Marianna
AU - Pavone, Luigi Michele
AU - Di Gregorio, Grazia
AU - Filocamo, Mirella
AU - Scarano, Gioacchino
PY - 2014
Y1 - 2014
N2 - Mucopolysaccharidosis type II (MPS II or Hunter syndrome) is a rare X-linked disorder caused by deficient activity of the lysosomal enzyme, iduronate-2-sulfatase (IDS). Phenotypic expression of MPS II in female patients rarely occurs and may be the result of (i) structural abnormalities of the X chromosome, (ii) homozygosity for disease-causing mutations, or (iii) skewed Xchromosome inactivation, in which the normal IDS allele is preferentially inactivated and the abnormal IDS allele is active. We report here on a female patient with clinical MPS II manifestations, deficiency of IDS enzyme activity and a de novo balanced reciprocal X;9 translocation. As our patient has a skewed XCI pattern, but neither genomic IDS mutations nor abnormal IDS transcripts were detected, we speculate about the possible role of the chromosomal rearrangement in reducing the IDS translation efficiency.
AB - Mucopolysaccharidosis type II (MPS II or Hunter syndrome) is a rare X-linked disorder caused by deficient activity of the lysosomal enzyme, iduronate-2-sulfatase (IDS). Phenotypic expression of MPS II in female patients rarely occurs and may be the result of (i) structural abnormalities of the X chromosome, (ii) homozygosity for disease-causing mutations, or (iii) skewed Xchromosome inactivation, in which the normal IDS allele is preferentially inactivated and the abnormal IDS allele is active. We report here on a female patient with clinical MPS II manifestations, deficiency of IDS enzyme activity and a de novo balanced reciprocal X;9 translocation. As our patient has a skewed XCI pattern, but neither genomic IDS mutations nor abnormal IDS transcripts were detected, we speculate about the possible role of the chromosomal rearrangement in reducing the IDS translation efficiency.
KW - Female hunter syndrome
KW - Iduronate 2-sulfatase
KW - Mucopolysaccharidosis type II
KW - Skewed
KW - X chromosome inactivation
KW - X;autosome translocation
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U2 - 10.1002/ajmg.a.36667
DO - 10.1002/ajmg.a.36667
M3 - Article
C2 - 25044788
AN - SCOPUS:84908235215
VL - 164
SP - 2627
EP - 2632
JO - American Journal of Medical Genetics, Part A
JF - American Journal of Medical Genetics, Part A
SN - 1552-4825
IS - 10
ER -