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

J 2005

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

SAND, Phillip, Berthold LANGGUTH, G. HAJAK, Martin PERNA, Radovan PŘIKRYL et. al.

Basic information

Original name

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

Name in Czech

Neuroligin 4 a transmembránové mutace u schizofrenie

Authors

SAND, Phillip (276 Germany), Berthold LANGGUTH (276 Germany), G. HAJAK (276 Germany), Martin PERNA (203 Czech Republic), Radovan PŘIKRYL (203 Czech Republic, guarantor), Hana KUČEROVÁ (203 Czech Republic), Eva ČEŠKOVÁ (203 Czech Republic), C. KICK (276 Germany), P. STOERTEBECKER (276 Germany) and P. EICHHAMMER (276 Germany)

Edition

Schizophrenia Research, 2005, 0920-9964

Other information

Language

English

Type of outcome

Článek v odborném periodiku

Field of Study

30000 3. Medical and Health Sciences

Country of publisher

Germany

Confidentiality degree

není předmětem státního či obchodního tajemství

Impact factor

Impact factor: 4.231

RIV identification code

RIV/00216224:14110/05:00021736

Organization unit

Faculty of Medicine

UT WoS

000236492500021

Keywords in English

neuroligin; schizophrenia

Abstract

ORIG CZ

V originále

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.

In Czech

Naše data ukazují na souvislost mezi mutacemi NLGNX4 a schizofrenií.

Links

MSM0021622404, plan (intention)

Name: Vnitřní organizace a neurobiologické mechanismy funkčních systémů CNS

Investor: Ministry of Education, Youth and Sports of the CR, The internal organisation and neurobiological mechanisms of functional CNS systems under normal and pathological conditions.

Citovat

SAND, Phillip, Berthold LANGGUTH, G. HAJAK, Martin PERNA, Radovan PŘIKRYL, Hana KUČEROVÁ, Eva ČEŠKOVÁ, C. KICK, P. STOERTEBECKER and P. EICHHAMMER. Screening for Neuroligin 4 (NLGN4) truncating and transmembrane domain mutations in schizophrenia. Schizophrenia Research. 2005, vol. 85, 2-3, p. 277-278. ISSN 0920-9964.

@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 and P. EICHHAMMER. Screening for Neuroligin 4 (NLGN4) truncating and transmembrane domain mutations in schizophrenia. \textit{Schizophrenia Research}. 2005, vol.~85, 2-3, p.~277-278. ISSN~0920-9964.

Detailed Information on Publication Record