Analysis of genetic variant in a child with concomitant spinal muscular atrophy and Citrin protein deficiency / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 828-832, 2020.
Article
in Chinese
| WPRIM
| ID: wpr-826477
ABSTRACT
OBJECTIVE@#To explore the genetic basis for a child with concomitant spinal muscular atrophy (SMA) and Citrin protein deficiency.@*METHODS@#The child was subjected to whole exome sequencing by using target sequence capture high-throughput sequencing. Candidate variants were verified by Sanger sequencing. The SMN genes of the patient were also analyzed through multiplex ligation-dependent probe amplification (MLPA).@*RESULTS@#The patient was found to carry homozygous deletion of exons 7 and 8 of the SMN1 gene, for which his parents were both carriers. The patient also carried compound heterozygous variants c.1737G>A and IVS16ins3kbof the SLA25A13 gene, in addition with compound heterozygous variants c.948G>A and c.2693T>C of the POLG gene, for which his parents were carriers, too.@*CONCLUSION@#Variants of the SLC25A13 gene probably underlay the deficiency of Citrin protein, which may lead to neonatal intrahepatic cholestasis (NICCD). The patient also had SMA. The compound heterozygous variants c.948G>A and c.2693T>C of the POLG gene are likely to cause mitochondrial DNA deletion syndrome type 4A, though other types of mitochondrial disease cannot be excluded.
Full text:
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Index:
WPRIM (Western Pacific)
Language:
Chinese
Journal:
Chinese Journal of Medical Genetics
Year:
2020
Type:
Article
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