Table 2

Genotypes of all analysed AKU patients from 15 families indicating identified disease causing mutations within the HGO gene

Patient NoFamily codeHGO mutations
Allele 1Allele 2
1ALK1G152fsV300G
2ALK2IVS5+1G→AG152fs
3ALK2IVS5+1G→AIVS5+1G→A
4ALK3G152fsP370fs
5ALK4G270RP370fs
6ALK5G270RP370fs
7ALK6IVS1-1G→AP370fs
8ALK7G152fsG152fs
9ALK8G161RP370fs
10ALK9S47LG161R
11ALK11G161RG270R
12ALK12G152fsG152fs
13ALK13G152fsG270R
14ALK13G152fsG161R
15ALK14G161RG161R
16ALK15G161RG161R
17ALK16P230SP230S