Table 1.
Mutations of DCDC2 in Two Families with Nephronophthisis-Related Ciliopathies
| Family-Individual | Ethnic Origin | Nucleotide Alterationa(Segregation) | Deduced protein Change | Exon/intron (state) | Parental Consanguinity | Kidney Phenotype | Liver Phenotype | Other (Clinical Characteristics) |
|---|---|---|---|---|---|---|---|---|
| A3547−22 | UK | c.649A>T (M: het, P: het) | p.Lys217∗ | 6 (Hom) | Yes | Increased echogenicity, severe interstitial fibrosis, tubular dilation with prominent epithelial luminal budding, ESRD at 14 yr. died at 16 yr. from esophageal bleeding | Hepatosplenomegaly, extensive florid fibrosis with destruction of bile ducts, bile focal duct proliferation with cholestasis | Left terminal ICA region aneurysm, foci of signal abnormality in subcortical and deep white matter |
| A4435−21 | Czech | c.123_124 delGT (M: het) c.349-2A>G (P: het) | p.Ser42Glnfs∗72b 3′ splice site (100% conserved) (p.Val117Leufs∗54)c | 2 (het) 4 (het) | No | No renal involvement current age 9 yr. | Hepatosplenomegaly, ductal plate malformation, hepatic fibrosis, scant cholestasis, LTX at 2 yr. | N/A |
CRF, chronic renal failure; ESRD, end-stage renal disease; het, heterozygous; Hom, homozygous; ICA, internal carotid artery; LTX, liver transplantation; M, maternal; N/A, not applicable; P, paternal; yr., years.
a
DCDC2: cDNA mutations are numbered according to human cDNA reference sequence NM_001195610.1.
b
The allele appears 12/8,242 in the EVS-Server database.
c
G is not among alternative nucleotides in the splice site consensus (3′ acceptor splice site position). The allele appears 3/67366 in the ExAC Browser database.