Clinical features and genetic testing of a child with hepatic failure syndrome type 2 / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 181-184, 2022.
Article
in Chinese
| WPRIM
| ID: wpr-928384
ABSTRACT
OBJECTIVE@#To explore the genetic basis for a child with infantile liver failure syndrome type 2 (ILFS type 2).@*METHODS@#Clinical features of the child were analyzed. Next generation sequencing was also carried out for him.@*RESULTS@#The child was found to harbor compound heterozygous variants of the NBAS gene, which included a novel nonsense c.2746A>T (p.R916X, 1456) variant in exon 24 and a missense c.3596G>A (p.C1199Y) mutation in exon 31, which has been associated with ILFS type 2. The two variants were respectively inherited from his father and mother.@*CONCLUSION@#The compound heterozygous variants of c.3596G>A and c.2746A>T of the NBAS gene probably underlay the ILFS type 2 in this child.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Genetic Testing
/
Exons
/
Liver Failure
/
High-Throughput Nucleotide Sequencing
/
Mutation
Limits:
Child
/
Humans
/
Male
Language:
Chinese
Journal:
Chinese Journal of Medical Genetics
Year:
2022
Type:
Article
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