A pedigree of a rare Cb1X type X-linked methylmalonic acidemia due to transcriptional co-regulator HCFC1 ;mutation
10.3969/j.issn.1000-3606.2016.03.014
- VernacularTitle:转录辅助调节因子HCFC1突变致罕见X连锁甲基丙二酸尿症CblX型一家系报告
- Author:
Dongxiao LI
;
Yupeng LIU
;
Yuan DING
;
Xiyuan LI
;
Jinqing SONG
;
Mengqiu LI
;
Yaping QIN
;
Yanling YANG
- Publication Type:Journal Article
- Keywords:
methylmalonic acidemia;
homocysteinemia;
X-linked inherited disorders;
HCFC1 gene
- From:
Journal of Clinical Pediatrics
2016;34(3):212-216
- CountryChina
- Language:Chinese
-
Abstract:
Objective To explore the clinical and genetic features in the pedigree of Cb1X type X-linked methylmalonic aciduria. Methods Clinical data of one child with X-linked methylmalonic aciduria diagnosed by blood and urine analysis were analyzed retrospectively. Targeted next-generation sequencing has been performed to detect the mutation of methylmalonic aciduria-related genes. Results The boy started presenting with seizures and severe mental retardation at 2 months of age. At 5 months of age, he had the manifestations of seizures, severe mental retardation, increased methylmalonic acid in urinary, increased propionylcarnitine in blood and increased plasma homocysteine, and met the requirements for the diagnosis of methylmalonic aciduria complicated with hyperhomocysteinemia. No mutation was detected in his MMA-related autosomal genes. However, a hemizygote mutation c.344C?>?T (p.Ala115Val) was identiifed in exon 3 of HCFC1 in X chromosome, which conifrmed the CblX type methylmalonic aciduria. His parents were healthy. His elder brother also manifested severe psychomotor retardation with intractable epilepsy, and died at 6 months of age with unknown cause. His mother carried the same mutation and had slightly elevated urine methylmalonic acid and plasma total homocysteine. His father did not carry the mutation. Conclusion A pedigree of a rare Cb1X type X-linked methylmalonic acidemia is ifrstly diagnosed in China by the new generation sequencing technology.
