Mucopolysaccharidosis type II in a female carrying a heterozygous stop mutation of the iduronate-2-sulfatase gene and showing a skewed X chromosome inactivation.
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Mucopolysaccharidosis type II in a female carrying a heterozygous stop mutation of the iduronate-2-sulfatase gene and showing a skewed X chromosome inactivation. / Piña-Aguilar, Raul E; Zaragoza-Arévalo, Gerardo R; Rau, Isabella; Gal, Andreas; Alcántara-Ortigoza, Miguel A; López-Martínez, Mónica S; Santillán-Hernández, Yuritzi.
In: EUR J MED GENET, Vol. 56, No. 3, 3, 2013, p. 159-162.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
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TY - JOUR
T1 - Mucopolysaccharidosis type II in a female carrying a heterozygous stop mutation of the iduronate-2-sulfatase gene and showing a skewed X chromosome inactivation.
AU - Piña-Aguilar, Raul E
AU - Zaragoza-Arévalo, Gerardo R
AU - Rau, Isabella
AU - Gal, Andreas
AU - Alcántara-Ortigoza, Miguel A
AU - López-Martínez, Mónica S
AU - Santillán-Hernández, Yuritzi
PY - 2013
Y1 - 2013
N2 - We report a Mexican girl showing the full blown clinical picture of mucopolysaccharidosis type II (MPSII). Iduronate-2-sulfatase (IDS) activity was low and she carried a heterozygous de novo c.1327C>T transition in exon 9, that changes codon 443 for a premature stop (TGA; p.Arg443(*)). Analysis of X-chromosome inactivation in androgen receptor (AR) locus showed a highly skewed ratio of 92:8 suggesting a functional hemizygosity with dominant expression of the mutant IDS and explaining the disease manifestation. This is one of the rare cases of females affected by MPSII due to the combined effect of a skewed X-chromosome inactivation and a de novo IDS mutation. We recommend that clinicians should consider the diagnosis of MPSII even in a girl without positive family history for this condition.
AB - We report a Mexican girl showing the full blown clinical picture of mucopolysaccharidosis type II (MPSII). Iduronate-2-sulfatase (IDS) activity was low and she carried a heterozygous de novo c.1327C>T transition in exon 9, that changes codon 443 for a premature stop (TGA; p.Arg443(*)). Analysis of X-chromosome inactivation in androgen receptor (AR) locus showed a highly skewed ratio of 92:8 suggesting a functional hemizygosity with dominant expression of the mutant IDS and explaining the disease manifestation. This is one of the rare cases of females affected by MPSII due to the combined effect of a skewed X-chromosome inactivation and a de novo IDS mutation. We recommend that clinicians should consider the diagnosis of MPSII even in a girl without positive family history for this condition.
M3 - SCORING: Journal article
VL - 56
SP - 159
EP - 162
JO - EUR J MED GENET
JF - EUR J MED GENET
SN - 1769-7212
IS - 3
M1 - 3
ER -