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De Novo Loss-of-Function Mutations in SETD5, Encoding a Methyltransferase in a 3p25 Microdeletion Syndrome Critical Region, Cause Intellectual Disability 

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Presentation on theme: "De Novo Loss-of-Function Mutations in SETD5, Encoding a Methyltransferase in a 3p25 Microdeletion Syndrome Critical Region, Cause Intellectual Disability "— Presentation transcript:

1 De Novo Loss-of-Function Mutations in SETD5, Encoding a Methyltransferase in a 3p25 Microdeletion Syndrome Critical Region, Cause Intellectual Disability  Detelina Grozeva, Keren Carss, Olivera Spasic-Boskovic, Michael J. Parker, Hayley Archer, Helen V. Firth, Soo-Mi Park, Natalie Canham, Susan E. Holder, Meredith Wilson, Anna Hackett, Michael Field, James A.B. Floyd, Matthew Hurles, F. Lucy Raymond  The American Journal of Human Genetics  Volume 94, Issue 4, Pages (April 2014) DOI: /j.ajhg Copyright © 2014 The American Society of Human Genetics Terms and Conditions

2 Figure 1 Families Affected by SETD5 Mutations
The pedigree for each family is shown at the top. Sanger sequencing electropherograms of the mutations are shown below the pedigrees. An arrow indicates the position of the mutation. The genomic coordinates are according to the GRCh37/hg19 human reference sequence. Abbreviations are as follows: NA, not available; WT, wild-type; and mut, mutation. Asterisks indicate that the Sanger sequencing illustration is of the reverse strand. The American Journal of Human Genetics  , DOI: ( /j.ajhg ) Copyright © 2014 The American Society of Human Genetics Terms and Conditions

3 Figure 2 Facial Appearance of the Individuals with SETD5 Mutations
Columns numbered 1–6 correspond to families 1–6, respectively, in Figure 1. Photographs from family 7 were unavailable for publication. The American Journal of Human Genetics  , DOI: ( /j.ajhg ) Copyright © 2014 The American Society of Human Genetics Terms and Conditions

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