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Article

A Novel Kleefstra Syndrome-associated Variant That Affects the Conserved TPLX Motif within the Ankyrin Repeat of EHMT1 Leads to Abnormal Protein Folding.

The Journal of biological chemistry - 3 Mar 2017

Blackburn Patrick R, Tischer Alexander, Zimmermann Michael T, Kemppainen Jennifer L, Sastry Sujatha, Knight Johnson Amy E, Cousin Margot A, Boczek Nicole J, Oliver Gavin, Misra Vinod K, Gavrilova Ralitza H, Lomberk Gwen, Auton Matthew, Urrutia Raul, Klee Eric W

Abstract excerpt

Kleefstra syndrome (KS) (Mendelian Inheritance in Man (MIM) no. 610253), also known as 9q34 deletion syndrome, is an autosomal dominant disorder caused by haploinsufficiency of euchromatic histone methyltransferase-1 (EHMT1). The clinical phenotype of KS includes moderate to severe intellectual disability with absent speech, hypotonia, brachycephaly, congenital heart defects, and dysmorphic facial features with...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 28057753
DOI: 10.1074/jbc.M116.770545
PMCID: PMC5339767

Genes

EHMT1

Variants

Provenance

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