Novel AHDC1 Gene Mutation in a Brazilian Individual: Implications of Xia-Gibbs Syndrome

被引：18

作者：

Cardoso-dos-Santos, Augusto C. ^{[1
]}

Silva, Thiago Oliveira ^{[2
]}

Faccini, Anderson Silveira ^{[1
]}

Kowalski, Thayne Woycinck ^{[1
]}

Bertoli-Avella, Aida ^{[3
]}

Morales Saute, Jonas A. ^{[2
,4
]}

Schuler-Faccini, Lavinia ^{[1
,2
]}

Poswar, Fabiano de Oliveira ^{[2
]}

机构：

[1] Univ Fed Rio Grande do Sul, Genet Dept, Porto Alegre, RS, Brazil

[2] Hosp Clin Porto Alegre, Med Genet Serv, Rua Ramiro Barcelos 2350, BR-90035903 Porto Alegre, RS, Brazil

[3] CENTOGENE AG, Rostock, Germany

[4] Univ Fed Rio Grande do Sul, Internal Med Dept, Porto Alegre, RS, Brazil

来源：

MOLECULAR SYNDROMOLOGY | 2020年 / 11卷 / 01期

关键词：

Exome sequencing; Intellectual disability; Neurodevelopmental disorders; Novel mutation; Sanger sequencing; SEQUENCE VARIANTS; EXOME; PHENOTYPE; DATABASE; PATIENT;

D O I：

10.1159/000505843

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Xia-Gibbs syndrome (XGS) is a rare neurological disorder characterized by global developmental delay, hypotonia, intellectual disability, seizures, and sleep apnea. XGS is defined by monoallelic pathogenic variants in AHDC1. In this study, we identified a Brazilian patient carrying a likely de novo AHDC1 nonsense mutation (c.451C>T; p.Arg151*) which was absent in both parents. All disease-causative variants already associated with XGS have been reviewed and the mutation described here corresponds to the closest one to the N-terminal region. Our findings were discussed based on the suggested genotype-phenotype correlation of the disease.

引用

页码：24 / 29

页数：6

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