Screening for Neuroligin 4 (NLGN4) truncating and transmembrane domain mutations in schizophrenia
| Authors | |
|---|---|
| Year of publication | 2005 |
| Type | Article in Periodical |
| Magazine / Source | Schizophrenia Research |
| MU Faculty or unit | |
| 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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