Clinical Genetics
Clinical characteristics and genetic analysis of a child with Galactosemia due to compound heterozygous variants of GALT gene
Xie Zhenhua, Liu Jing, Li Xian, Xiao Mengjun, Zhang Qiang, Zhang Zhenkun, Zhang Yaodong, Li Dongxiao
Published 2023-07-10
Cite as Chin J Med Genet, 2023, 40(7): 842-846. DOI: 10.3760/cma.j.cn51137420220518-00334
Abstract
ObjectiveTo explore the clinical features and genetic basis of a child with Galactosemia.
MethodsA child who had presented at the Children′s Hospital Affiliated to Zhengzhou University on November 20, 2019 was selected as the study subject. Clinical data of the child was collected. Whole exome sequencing was carried out for the child. Candidate variants were validated by Sanger sequencing.
ResultsClinical manifestations of the child have included anemia, feeding difficulty, jaundice, hypomyotonia, abnormal liver function and coagulation abnormality. Tandem mass spectrometry showed increased citrulline, methionine, ornithine and tyrosine. Urine organic acid analysis showed increased phenyllactic acid, 4-hydroxyphenylacetic acid, 4-hydroxyphenyllactic acid, 4-hydroxyphenylpyruvate and N-acetyltyrosine. Genetic testing revealed that the child has harbored compound heterozygous variants of the GALT gene, namely c. 627T>A (p.Y209*) and c. 370G>C (p.G124R), which were respectively inherited from her healthy parents. Among these, c. 627T>A (p.Y209*) was known as a likely pathogenic variant, while c. 370G>C (p. G124R) was unreported previously and also predicted as a likely pathogenic variant(PM1+ PM2_Supporting+ PP3_Moderate+ PP4).
ConclusionAbove discovery has expanded the spectrum of the GALT gene variants underlying Galactosemia. Patients with thrombocytopenia, feeding difficulties, jaundice, abnormal liver function and coagulation abnormality without obvious causes should be analyzed by screening of metabolic diseases in combination with genetic testing.
Key words:
Galactosemia; GALT gene; Genetic variant
Contributor Information
Xie Zhenhua
Henan Provincial Key Laboratory of Pediatric Genetics and Metabolic Diseases, Children′s Hospital Affiliated to Zhengzhou University, Zhengzhou, Henan 450018, China
Liu Jing
Henan Provincial Key Laboratory of Pediatric Genetics and Metabolic Diseases, Children′s Hospital Affiliated to Zhengzhou University, Zhengzhou, Henan 450018, China
Li Xian
Henan Provincial Key Laboratory of Pediatric Genetics and Metabolic Diseases, Children′s Hospital Affiliated to Zhengzhou University, Zhengzhou, Henan 450018, China
Xiao Mengjun
Henan Provincial Key Laboratory of Pediatric Genetics and Metabolic Diseases, Children′s Hospital Affiliated to Zhengzhou University, Zhengzhou, Henan 450018, China
Zhang Qiang
Henan Provincial Key Laboratory of Pediatric Genetics and Metabolic Diseases, Children′s Hospital Affiliated to Zhengzhou University, Zhengzhou, Henan 450018, China
Zhang Zhenkun
Henan Provincial Key Laboratory of Pediatric Genetics and Metabolic Diseases, Children′s Hospital Affiliated to Zhengzhou University, Zhengzhou, Henan 450018, China
Zhang Yaodong
Henan Provincial Key Laboratory of Pediatric Genetics and Metabolic Diseases, Children′s Hospital Affiliated to Zhengzhou University, Zhengzhou, Henan 450018, China
Li Dongxiao
Henan Provincial Key Laboratory of Pediatric Genetics and Metabolic Diseases, Children′s Hospital Affiliated to Zhengzhou University, Zhengzhou, Henan 450018, China
