De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome

A Hoischen, BWM Van Bon, B Rodríguez-Santiago… - Nature …, 2011 - nature.com
A Hoischen, BWM Van Bon, B Rodríguez-Santiago, C Gilissen, LELM Vissers, P De Vries…
Nature genetics, 2011nature.com
Bohring-Opitz syndrome is characterized by severe intellectual disability, distinctive facial
features and multiple congenital malformations. We sequenced the exomes of three
individuals with Bohring-Opitz syndrome and in each identified heterozygous de novo
nonsense mutations in ASXL1, which is required for maintenance of both activation and
silencing of Hox genes. In total, 7 out of 13 subjects with a Bohring-Opitz phenotype had de
novo ASXL1 mutations, suggesting that the syndrome is genetically heterogeneous.
Abstract
Bohring-Opitz syndrome is characterized by severe intellectual disability, distinctive facial features and multiple congenital malformations. We sequenced the exomes of three individuals with Bohring-Opitz syndrome and in each identified heterozygous de novo nonsense mutations in ASXL1, which is required for maintenance of both activation and silencing of Hox genes. In total, 7 out of 13 subjects with a Bohring-Opitz phenotype had de novo ASXL1 mutations, suggesting that the syndrome is genetically heterogeneous.
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