PubMed ID | Description |
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15168106 | Gene was disrupted by translocation in a patient with Cornelia de Lange syndrome. However mutation screening of NAALADL2 in a panel of CdLS patient DNA samples failed to identify patient-specific mutations. |
22106001 | A 2.2?Mb deletion at 3q26.3-3q26.32-encompassing the terminal end of NLGN1 and the entire NAALADL2 gene-detected by genomic microarray, and confirmed by FISH and real-time quantitative PCR. The same size deletion was subsequently found in her healthy, asymptomatic, adult mother. |
NAALADL2 is in a subtelomeric region of 3q. Reported losses are contiguous with larger deletions (either interstitial or terminal). There are no reports of isolated deletions or duplications of this gene.