Genetic Diseases, X-Linked

Publication Title: 
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics: The Official Publication of the International Society of Psychiatric Genetics

Monozygotic (MZ) twins may be subject to epigenetic modifications that could result in different patterns of gene expression. Several lines of evidence suggest that epigenetic factors may underlie mental disorders such as bipolar disorder (BD) and schizophrenia (SZ). One important epigenetic modification, of relevance to female MZ twins, is X-chromosome inactivation. Some MZ female twin pairs are discordant for monogenic X linked disorders because of differential X inactivation.

Author(s): 
Rosa, Araceli
Picchioni, Marco M.
Kalidindi, Sridevi
Loat, Caroline S.
Knight, Joanne
Toulopoulou, Timothea
Vonk, Ronald
van der Schot, Astrid C.
Nolen, Willem
Kahn, RenÈ S.
McGuffin, Peter
Murray, Robin M.
Craig, Ian W.
Publication Title: 
JAMA neurology

IMPORTANCE: Despite recessive inheritance, X-linked dystonia-parkinsonism (Lubag disease) has also been described in women presenting with a late-onset isolated parkinsonian syndrome. Interestingly, unlike in other populations, there is a slight female predominance in the prevalence of parkinsonism in the Philippines. OBSERVATIONS: In a Filipino woman with suspected Parkinson disease, we confirmed the presence of all changes specific for X-linked dystonia-parkinsonism in genomic DNA.

Author(s): 
Domingo, Aloysius
Lee, Lillian V.
Br¸ggemann, Norbert
Freimann, Karen
Kaiser, Frank J.
Jamora, Roland D. G.
Rosales, Raymond L.
Klein, Christine
Westenberger, Ana
Publication Title: 
Orvosi Hetilap

According to Article 14 of the Oviedo Convention on Human Rights and Biomedicine of the Council of Europe, the use of techniques of medically assisted procreation shall not be allowed for the purpose of choosing the sex of a future child, unless serious hereditary sex-related disease is to be avoided. In Israel and the United States of America, pre-conception sex selection for the purpose of family balancing is legal. The European health culture does not regard reproductive justice as part of social justice. From this aspect, the situation is very similar in China and India.

Author(s): 
Julesz, M·tÈ
Publication Title: 
Proceedings of the National Academy of Sciences of the United States of America

Transporters at the hepatic canalicular membrane are essential for the formation of bile and the prevention of cholestatic liver disease. One such example is ATP8B1, a P4-type ATPase disrupted in three inherited forms of intrahepatic cholestasis. Mutation of the X-linked mouse gene Atp11c, which encodes a paralogous P4-type ATPase, precludes B-cell development in the adult bone marrow, but also causes hyperbilirubinemia. Here we explore this hyperbilirubinemia in two independent Atp11c mutant mouse lines, and find that it originates from an effect on nonhematopoietic cells.

Author(s): 
Siggs, Owen M.
Schnabl, Bernd
Webb, Bill
Beutler, Bruce
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