Clinical and genetic analysis of two pedigrees affected with aromatic L-amino acid decarboxylase deficiency
10.3760/cma.j.issn.1003-9406.2019.11.007
- VernacularTitle: 两个芳香族L-氨基酸脱羧酶缺乏症家系的临床表型及遗传学分析
- Author:
Yong WANG
1
;
Zhongling KE
1
;
Hongchun ZOU
2
;
Mingxing LIN
1
;
Mingqi QIU
1
;
Weiyue GU
2
;
Yanhui CHEN
1
Author Information
1. Department of Pediatrics, Union Hospital Affiliated to Fujian Medical University, Fuzhou, Fujian 350001, China
2. Chigene Translational Medicine Research Center Co., Ltd., Beijing 100176, China
- Publication Type:Journal Article
- Keywords:
Aromatic L-amino acid decarboxylase deficiency;
Diagnosis;
Gene variant
- From:
Chinese Journal of Medical Genetics
2019;36(11):1085-1089
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To delineate the clinical and genetic features of two pedigrees affected with aromatic L-amino acid decarboxylase (AADC) deficiency.
Methods:The clinical features, family history and results of genetic testing of 2 patients with AADC deficiency were retrospectively analyzed.
Results:Both patients featured hypotension, developmental delay and oculogyric crisis during infancy.Genetic testing confirmed that they have respectively carried c. 714+ 4 (IVS6) A>T/c.175(exon2)G>A compound heterozygous variants and c. 714+ 4(IVS6)A>T homozygous variant.
Conclusion:The clinical manifestation of children with AADC deficiency may include hypotonia, developmental delay and paroxysmal oculogyric crisis. The combination of 3-O-methyldopa testing and variant analysis is not only very useful for early diagnosis, but also important for the evaluation of treatment effect and prognosis of the disease. Discovery of the novel variants has enriched the variant spectrum of AADC deficiency.
