Abstract
The chromosome 17q21.31 deletion syndrome is a genomic disorder characterized by highly distinctive facial features, moderate-to-severe intellectual disability, hypotonia and friendly behavior. Here, we show that de novo loss-of-function mutations in KANSL1 (also called KIAA1267) cause a full del(17q21.31) phenotype in two unrelated individuals that lack deletion at 17q21.31. These findings indicate that 17q21.31 deletion syndrome is a monogenic disorder caused by haploinsufficiency of KANSL1.
Lingua originale | English |
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pagine (da-a) | 636-638 |
Numero di pagine | 3 |
Rivista | Nature Genetics |
Volume | 44 |
DOI | |
Stato di pubblicazione | Pubblicato - 2012 |
Keywords
- 17q21.31
- KANSL1
- microdeletion