Abstract
Usher syndrome (USH) is a clinically common autosomal recessive disorder characterized by retinitis pigmentosa (RP) and sensorineural hearing loss with or without vestibular dysfunction. In this study, we identified a Hunan family of Chinese descent with two affected members clinically diagnosed with Usher syndrome type 3 (USH3) displaying hearing, visual acuity, and olfactory decline. Whole-exome sequencing (WES) identified a nonsense variant in ABHD12 gene that was confirmed to be segregated in this family by Sanger sequencing and exhibited a recessive inheritance pattern. In this family, two patients carried homozygous variant in the ABHD12 (NM_015600: c.249C>G). Mutation of ABHD12, an enzyme that hydrolyzes an endocannabinoid lipid transmitter, caused incomplete PHARC syndrome, as demonstrated in previous reports. Therefore, we also conducted a summary based on variants in ABHD12 in PHARC patients, and in PHARC patients showing that there was no obvious correlation between the genotype and phenotype. We believe that this should be considered during the differential diagnosis of USH. Our findings predicted the potential function of this gene in the development of hearing and vision loss, particularly with regard to impaired signal transmission, and identified a novel nonsense variant to expand the variant spectrum in ABHD12.
| Original language | English (US) |
|---|---|
| Pages (from-to) | 113-120 |
| Number of pages | 8 |
| Journal | Gene |
| Volume | 704 |
| DOIs | |
| State | Published - Jul 1 2019 |
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Keywords
- ABHD12
- Novel nonsense variant
- PHARC syndrome
- Usher syndrome
ASJC Scopus subject areas
- Genetics
Cite this
A novel ABHD12 nonsense variant in Usher syndrome type 3 family with genotype-phenotype spectrum review. / Li, Taoxi; Feng, Yong; Liu, Yalan; He, Chufeng; Liu, Jing; Chen, Hongsheng; Deng, Yuyuan; Li, Meng; Li, Wu; Song, Jian; Niu, Zhijie; Sang, Shushan; Wen, Jie; Men, Meichao; Chen, Xiaoya; Li, Jiada; Liu, Xue Z; Ling, Jie.
In: Gene, Vol. 704, 01.07.2019, p. 113-120.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - A novel ABHD12 nonsense variant in Usher syndrome type 3 family with genotype-phenotype spectrum review
AU - Li, Taoxi
AU - Feng, Yong
AU - Liu, Yalan
AU - He, Chufeng
AU - Liu, Jing
AU - Chen, Hongsheng
AU - Deng, Yuyuan
AU - Li, Meng
AU - Li, Wu
AU - Song, Jian
AU - Niu, Zhijie
AU - Sang, Shushan
AU - Wen, Jie
AU - Men, Meichao
AU - Chen, Xiaoya
AU - Li, Jiada
AU - Liu, Xue Z
AU - Ling, Jie
PY - 2019/7/1
Y1 - 2019/7/1
N2 - Usher syndrome (USH) is a clinically common autosomal recessive disorder characterized by retinitis pigmentosa (RP) and sensorineural hearing loss with or without vestibular dysfunction. In this study, we identified a Hunan family of Chinese descent with two affected members clinically diagnosed with Usher syndrome type 3 (USH3) displaying hearing, visual acuity, and olfactory decline. Whole-exome sequencing (WES) identified a nonsense variant in ABHD12 gene that was confirmed to be segregated in this family by Sanger sequencing and exhibited a recessive inheritance pattern. In this family, two patients carried homozygous variant in the ABHD12 (NM_015600: c.249C>G). Mutation of ABHD12, an enzyme that hydrolyzes an endocannabinoid lipid transmitter, caused incomplete PHARC syndrome, as demonstrated in previous reports. Therefore, we also conducted a summary based on variants in ABHD12 in PHARC patients, and in PHARC patients showing that there was no obvious correlation between the genotype and phenotype. We believe that this should be considered during the differential diagnosis of USH. Our findings predicted the potential function of this gene in the development of hearing and vision loss, particularly with regard to impaired signal transmission, and identified a novel nonsense variant to expand the variant spectrum in ABHD12.
AB - Usher syndrome (USH) is a clinically common autosomal recessive disorder characterized by retinitis pigmentosa (RP) and sensorineural hearing loss with or without vestibular dysfunction. In this study, we identified a Hunan family of Chinese descent with two affected members clinically diagnosed with Usher syndrome type 3 (USH3) displaying hearing, visual acuity, and olfactory decline. Whole-exome sequencing (WES) identified a nonsense variant in ABHD12 gene that was confirmed to be segregated in this family by Sanger sequencing and exhibited a recessive inheritance pattern. In this family, two patients carried homozygous variant in the ABHD12 (NM_015600: c.249C>G). Mutation of ABHD12, an enzyme that hydrolyzes an endocannabinoid lipid transmitter, caused incomplete PHARC syndrome, as demonstrated in previous reports. Therefore, we also conducted a summary based on variants in ABHD12 in PHARC patients, and in PHARC patients showing that there was no obvious correlation between the genotype and phenotype. We believe that this should be considered during the differential diagnosis of USH. Our findings predicted the potential function of this gene in the development of hearing and vision loss, particularly with regard to impaired signal transmission, and identified a novel nonsense variant to expand the variant spectrum in ABHD12.
KW - ABHD12
KW - Novel nonsense variant
KW - PHARC syndrome
KW - Usher syndrome
UR - http://www.scopus.com/inward/record.url?scp=85064713427&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=85064713427&partnerID=8YFLogxK
U2 - 10.1016/j.gene.2019.04.008
DO - 10.1016/j.gene.2019.04.008
M3 - Article
C2 - 30974196
AN - SCOPUS:85064713427
VL - 704
SP - 113
EP - 120
JO - Gene
JF - Gene
SN - 0378-1119
ER -