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@article{700587,
author = {Sand, Phillip and Langguth, Berthold and Hajak, G. and Perna, Martin and Přikryl, Radovan and Kučerová, Hana and Češková, Eva and Kick, C. and Stoertebecker, P. and Eichhammer, P.},
article_number = {2-3},
keywords = {neuroligin; schizophrenia},
language = {eng},
issn = {0920-9964},
journal = {Schizophrenia Research},
title = {Screening for Neuroligin 4 (NLGN4) truncating and transmembrane domain mutations in schizophrenia},
volume = {85},
year = {2005}
}
TY - JOUR
ID - 700587
AU - Sand, Phillip - Langguth, Berthold - Hajak, G. - Perna, Martin - Přikryl, Radovan - Kučerová, Hana - Češková, Eva - Kick, C. - Stoertebecker, P. - Eichhammer, P.
PY - 2005
TI - Screening for Neuroligin 4 (NLGN4) truncating and transmembrane domain mutations in schizophrenia
JF - Schizophrenia Research
VL - 85
IS - 2-3
SP - 277-278
EP - 277-278
SN - 09209964
KW - neuroligin
KW - schizophrenia
N2 - The present findings suggest that neither of two previously described NLGNX4 truncating mutations plays a major role in schizophrenia. Systematic screening of the transmembrane domain sequence of NLGN4X and NLGN4Y confirmed that this key functional region is also highly conserved in schizophrenic subjects. Our data currently do not rule out mutations in the remaining NLGN4 sequences, spanning 140kb on the X-chromosome, and 340kb on the Y-chromosome. More detailed investigations, however, including autosomal neuroligin genes, have now equally tempered expectations of a strong neuroligin genotype-phenotype association in other neurodevelopmental disorders (Vincent et al., 2004; Ylisaukko-Oja et al., 2005). Thus the phenotypic risk ascribable to truncating NLGN4 variants is most likely limited to rare monogenetic syndromes distinct from the majority of autistic and schizophrenic typologies.
ER -
SAND, Phillip, Berthold LANGGUTH, G. HAJAK, Martin PERNA, Radovan PŘIKRYL, Hana KUČEROVÁ, Eva ČEŠKOVÁ, C. KICK, P. STOERTEBECKER a P. EICHHAMMER. Screening for Neuroligin 4 (NLGN4) truncating and transmembrane domain mutations in schizophrenia. \textit{Schizophrenia Research}. roč.~85, 2-3, s.~277-278. ISSN~0920-9964. 2005.
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