Analysis of genetic variant in a child with concomitant spinal muscular atrophy and Citrin protein deficiency.
10.3760/cma.j.issn.1003-9406.2020.08.006
- VernacularTitle:脊髓性肌萎缩症合并希特林蛋白缺乏症患儿的基因变异检测
- Author:
Bingbo ZHOU
1
,
2
;
Qinghua ZHANG
;
Furong LIU
;
Chuan ZHANG
;
Lei ZHENG
;
Xing WANG
;
Shengju HAO
Author Information
1. Medical Genetics Center, Gansu Provincial Maternal and Child Health Care Hospital, Lanzhou, Gansu 730050, China. haosj165@
2. com.
- Publication Type:Journal Article
- From:
Chinese Journal of Medical Genetics
2020;37(8):828-832
- CountryChina
- Language:Chinese
-
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.
