Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Query: UMLS:C0008370 (
cholestasis
)
9,378
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
Undiagnosed liver disease remains an unmet medical need in pediatric hepatology, including children with high gamma-glutamyltransferase (GGT)
cholestasis
. Here, we report whole-exome sequencing of germline DNA from 2 unrelated children, both offspring of consanguineous union, with neonatal
cholestasis
and high GGT of unclear etiology. Both children had a rare homozygous damaging mutation (p.Arg219* and p.Val204Met) in
kinesin family member 12
(
KIF12
). Furthermore, an older sibling of the child homozygous for p.Val204Met missense mutation, who was also found to have
cholestasis
, had the same homozygous mutation, thus identifying the cause of the underlying liver disease.
Conclusion
: Our findings implicate rare homozygous mutations in
KIF12
in the pathogenesis of cholestatic liver disease with high GGT in 3 previously undiagnosed children.
...
PMID:Recessive Mutations in
KIF12
Cause High Gamma-Glutamyltransferase Cholestasis. 3097 38
