Recessive Mutations in KIF12 Cause High Gamma‐Glutamyltransferase Cholestasis
| Autor: | Subhash K. Das, Dhanpat Jain, Carol Nelson-Williams, Richard P. Lifton, Gülseren Evirgen Şahin, Aysel Ünlüsoy Aksu, Silvia Vilarinho, Ferda Özbay Hoşnut |
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| Rok vydání: | 2019 |
| Předmět: |
0303 health sciences
medicine.medical_specialty Mutation Hepatology business.industry Offspring medicine.disease medicine.disease_cause 3. Good health Pathogenesis 03 medical and health sciences Liver disease 0302 clinical medicine Cholestasis Internal medicine Immunology medicine Missense mutation 030211 gastroenterology & hepatology Neonatal cholestasis business 030304 developmental biology |
| Zdroj: | Hepatology Communications. 3:471-477 |
| ISSN: | 2471-254X |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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