A boy with Meier-Gorlin syndrome carrying a novel ORC6 mutation and uniparental disomy of chromosome 16.
- Author:
Juan LI
1
,
2
,
3
;
Yu DING
;
Guoying CHANG
;
Qing CHENG
;
Xin LI
;
Jian WANG
;
Xiumin WANG
;
Yiping SHEN
Author Information
- Publication Type:Case Reports
- MeSH: Base Sequence; Child; Chromosomes, Human, Pair 16; genetics; Congenital Microtia; genetics; Family Health; Fathers; Growth Disorders; genetics; Heterozygote; Humans; Male; Micrognathism; genetics; Mutation; Origin Recognition Complex; genetics; Patella; abnormalities; Polymerase Chain Reaction; methods; Sequence Analysis, DNA; methods; Uniparental Disomy; genetics
- From: Chinese Journal of Medical Genetics 2017;34(1):68-72
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo identify the genetic cause for a 11-year-old Chinese boy with Meier-Gorlin syndrome (MGS).
METHODSChromosomal microarray analysis (CMA) was used to detect potential variations, while whole exome sequencing (WES) was used to identify sequence variants. Sanger sequencing was used to confirm the suspected variants.
RESULTSThe boy has featured short stature, microtia, small patella, slender body build, craniofacial anomalies, and small testes with normal gonadotropin. A complete uniparental disomy of chromosome 16 was revealed by CMA. WES has identified a novel homozygous mutation c.67A>G (p.Lys23Glu) in ORC6 gene mapped to chromosome 16. As predicted by Alamut functional software, the mutation may affect the function of structural domain of the ORC6 protein.
CONCLUSIONThe patient is probably the first diagnosed MGS case in China, who carried a novel homozygous mutation of the ORC6 gene and uniparental disomy of chromosome 16. The effect of this novel mutation on the growth and development needs to be further investigated.
