Novel splice isoforms for NLGN3 and NLGN4 with possible implications in autism.

ABSTRACT:

Objective

To screen cDNA for NLGN3 and NLGN4 from lymphoblastoid cells from autistic subjects.

Methods and results

10 young autistic females and 30 non-autistic subjects were studied for alterations in two X linked genes, NLGN3 and NLGN4. A novel NLGN4 isoform lacking exon 4, which occurred de novo on the paternal allele, was identified in one of the autistic females. Monoallelic expression of NLGN4 was seen in this subject and in 11 of 14 informative autistic and non-autistic females using a single nucleotide polymorphism found at 3' UTR. Additionally, the NLGN3 transcript was present in two isoforms (with and without exon 7) in nine of 10 autistic females and in 30 non-autistic subjects, including parents of the autistic female having only the complete transcript with exon

SUBMITTER: Talebizadeh Z 

PROVIDER: S-EPMC2564526 | biostudies-literature | 2006 May

REPOSITORIES: biostudies-literature