Screening for Neuroligin 4 (NLGN4) truncating and transmembrane domain mutations in schizophrenia

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Authors	SAND Phillip LANGGUTH Berthold HAJAK G. PERNA Martin PŘIKRYL Radovan KUČEROVÁ Hana ČEŠKOVÁ Eva KICK C. STOERTEBECKER P. EICHHAMMER P.
Year of publication	2005
Type	Article in Periodical
Magazine / Source	Schizophrenia Research
MU Faculty or unit	Faculty of Medicine
Citation
Field	Psychiatry, sexuology
Keywords	neuroligin; schizophrenia
Description	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.
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