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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.

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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, Jahrgang 56, Nr. 3, 3, 2013, S. 159-162.

Publikationen: SCORING: Beitrag in Fachzeitschrift/Zeitung › SCORING: Zeitschriftenaufsatz › Forschung › Begutachtung

Harvard

Piña-Aguilar, RE, Zaragoza-Arévalo, GR, Rau, I, Gal, A, Alcántara-Ortigoza, MA, López-Martínez, MS & Santillán-Hernández, Y 2013, 'Mucopolysaccharidosis type II in a female carrying a heterozygous stop mutation of the iduronate-2-sulfatase gene and showing a skewed X chromosome inactivation.', EUR J MED GENET, Jg. 56, Nr. 3, 3, S. 159-162. <http://www.ncbi.nlm.nih.gov/pubmed/23232253?dopt=Citation>

APA

Piña-Aguilar, R. E., Zaragoza-Arévalo, G. R., Rau, I., Gal, A., Alcántara-Ortigoza, M. A., López-Martínez, M. S., & Santillán-Hernández, Y. (2013). Mucopolysaccharidosis type II in a female carrying a heterozygous stop mutation of the iduronate-2-sulfatase gene and showing a skewed X chromosome inactivation. EUR J MED GENET, 56(3), 159-162. [3]. http://www.ncbi.nlm.nih.gov/pubmed/23232253?dopt=Citation

Vancouver

Piña-Aguilar RE, Zaragoza-Arévalo GR, Rau I, Gal A, Alcántara-Ortigoza MA, López-Martínez MS et al. Mucopolysaccharidosis type II in a female carrying a heterozygous stop mutation of the iduronate-2-sulfatase gene and showing a skewed X chromosome inactivation. EUR J MED GENET. 2013;56(3):159-162. 3.

Bibtex

@article{e4d0fa762dd74484af6478e713d3b7f8,
title = "Mucopolysaccharidosis type II in a female carrying a heterozygous stop mutation of the iduronate-2-sulfatase gene and showing a skewed X chromosome inactivation.",
abstract = "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.",
author = "Pi{\~n}a-Aguilar, {Raul E} and Zaragoza-Ar{\'e}valo, {Gerardo R} and Isabella Rau and Andreas Gal and Alc{\'a}ntara-Ortigoza, {Miguel A} and L{\'o}pez-Mart{\'i}nez, {M{\'o}nica S} and Yuritzi Santill{\'a}n-Hern{\'a}ndez",
year = "2013",
language = "English",
volume = "56",
pages = "159--162",
journal = "EUR J MED GENET",
issn = "1769-7212",
publisher = "Elsevier Masson SAS",
number = "3",

}

RIS

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 -