Mutations in PNKP Cause Recessive Ataxia with Oculomotor Apraxia Type 4 Jose Bras, Isabel Alonso, Clara Barbot, Maria Manuela Costa, Lee Darwent, Tatiana.

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Mutations in PNKP Cause Recessive Ataxia with Oculomotor Apraxia Type 4 Jose Bras, Isabel Alonso, Clara Barbot, Maria Manuela Costa, Lee Darwent, Tatiana Orme, Jorge Sequeiros, John Hardy, Paula Coutinho, Rita Guerreiro The American Journal of Human Genetics Volume 96, Issue 3, Pages 474-479 (March 2015) DOI: 10.1016/j.ajhg.2015.01.005 Copyright © 2015 The Authors Terms and Conditions

Figure 1 Pedigrees of the Portuguese Families In which AOA-Affected Members Had PNKP Mutations and Protein Representation with the Location of the Variants Found to Be Associated with Different Phenotypes Black symbols represent individuals affected by AOA. An arrow indicates the index individual in each family. Mutation segregation with disease is indicated underneath each symbol; all unaffected family members carry either a single variant (wt/mut) or no variants (wt/wt), and all affected individuals harbor mutations in homozygosity or compound heterozygosity. In the lower panel, PNKP (RefSeq NP_009185.2) is represented with the depicted regions as predicted by UniProtKB (Q96T60). Variants found in this study are represented in black and are all located in or adjacent to the kinase region of the protein. Variants previously identified in individuals with MCSZ are represented in gray. An additional 17-bp intron 15 deletion was reported in one family, which is not represented here.13 The variant p.Thr424Glyfs∗49 (in orange) has been previously associated with MSCZ13 and with progressive cerebellar atrophy and polyneuropathy.14 The same change was identified in compound heterozygosity with p.Gly375Trp in family 1. Targeted resequencing has also identified the p.Pro20Ser (c.58G>A) variant in an individual with epileptic encephalopathy;15 this variant was considered to be pathogenic in the homozygous state but had previously been identified in the Exome Variant Server (overall MAF of 0.9%) and dbSNP databases and classified as benign in ClinVar. The American Journal of Human Genetics 2015 96, 474-479DOI: (10.1016/j.ajhg.2015.01.005) Copyright © 2015 The Authors Terms and Conditions