Clinical and genetic analysis of a case with infantile Parkinsonism with motor delay due to tyrosine hydroxylase deficiency.
10.3760/cma.j.issn.1003-9406.2020.04.023
- VernacularTitle:一例酪氨酸羟化酶缺乏症导致的小儿帕金森症伴运动延迟的临床及基因变异分析
- Author:
Chongfen CHEN
1
;
Jinghui KONG
;
Lili GE
;
Lei LIU
;
Yinsen SONG
Author Information
1. Children's Hospital Affiliated to Zhengzhou University, Henan Provincial Key Laboratory of Children's Genetics and Metabolic Disease, Zhengzhou, Henan 450018, China. dl13607670608@126.com.
- Publication Type:Case Reports
- MeSH:
Brain;
diagnostic imaging;
Codon, Nonsense;
Dystonic Disorders;
congenital;
genetics;
Female;
Genetic Testing;
High-Throughput Nucleotide Sequencing;
Humans;
Infant;
Magnetic Resonance Imaging;
Mutation;
Parkinsonian Disorders;
genetics;
Tyrosine 3-Monooxygenase;
genetics
- From:
Chinese Journal of Medical Genetics
2020;37(4):455-458
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To explore the clinical characteristics and genetic variants in a child with tyrosine hydroxylase-deficient infantile Parkinsonism with motor delay.
METHODS:Clinical feature of the patient was summarized. Genomic DNA was extracted from peripheral blood samples taken from the child and her family members. All exons of GCH1, TH and SPR genes were subjected to targeted capture and next-generation sequencing. Suspected variants were verified by Sanger sequencing.
RESULTS:The child could not sit alone at 7 month and 11 days. Physical examination suggested motor retardation and hypotonia, limb stiffness, head nodding, slight torticollis, and language and intellectual developmental delays. She developed involuntary shaking of limbs at 3 month old, which lasted approximately 10 seconds and aggregated with excitement and before sleeping. Cranial MRI revealed widening of subarachnoid space on the temporomandibular and particularly temporal sides. Genetic testing revealed that she has carried a nonsense c.457C>T (p.R153X) variant, which was known to be pathogenic, and a novel missense c.720C>G (p.I240M) variant of the TH gene. The two variants were derived from her father and mother, respectively.
CONCLUSION:The child was diagnosed as tyrosine hydroxylase-deficient infantile Parkinsonism with motor delay due to compound heterozygous variants of the TH gene. Above finding has enriched the spectrum of TH gene variants.
