STUB1/CHIP mutations cause Gordon Holmes syndrome as part of a widespread multisystemic neurodegeneration: evidence from four novel mutations

Table 1 Summary of the novel STUB1 mutations

Sybject	Family 1, II.1		Family 2, II.1 + II.4
Phenotype	Dementia, upper motor neuron damage, hypogonadism, ataxia, epilepsy		Dementia, upper motor neuron damage, epilepsy, ataxia
Genomic position	Chr16:732457	Chr16:731347	Chr16:731512	Chr16:732223
cDNA change	c.880A > T	c.355C > T	c.433A > C	c.728C > T
Protein change	p.Ile294Phe	p.Arg119*	p.Lys145Gln	p.Pro243Leu
GVS Function	missense	nonsense	missense	missense
PhyloP 100	4.5	1.6	7.07	5.85
PolyPhen2 (div)	probably damaging	NA	possibly damaging	probably damaging
SIFT	D	NA	D	D
Mutation Taster	D	D	D	D
ExAc/EVS/1000G	0	0	0.001/0.001/0.001	0/NA/NA
GENESIS allele counts	1	1	6 (het)	1

Overview of the mutations including phenotypic features, rating by the mutation prediction softwares PhyloP, PolyPhen2, SIFT, and Mutation Taster and a summary of the allele frequency in the databases ExAc/EVS/1000G MAF and GENESIS. Legend: NA not applicable. ExAc Exome Aggregation Consortium, EVS Exome Variant Server, 1000G MAF 1000 Genomes minor allele frequency, het heterozygous, GVS Genome Variant Server

ISSN: 1750-1172