Ethnic preference distribution of inborn errors of metabolism: A 4-year study in a multi-ethnic region of China

Mao, Xinmei; Li, Shuhong; Ma, Yu‐Lan; Jing, Miao; Wang, Yue; Wang, Fang; Yang, Min; Miao, Tianjing; Liu, Jia

doi:10.1016/j.cca.2020.10.003

Cited by 4 publications

(4 citation statements)

References 32 publications

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“…Interestingly, we found that the incidence of IEMs in the Huaihua minority ethnic groups (1:1,852) was more than two times that of the Han ethnic group (1:4,741). Although few studies have reported on the prevalence of genetic metabolic diseases among Chinese ethnic minorities, in 2020, a 4-year study in a multi-ethnic region of China revealed that the Hui nationality (Mao et al, 2020), as one of the minorities in China, has a significantly higher incidence rate of IEMs than the Han, which is consistent with our findings. Moreover, Zhao et al (2019) reported that the total carrier frequency of 11 genetic diseases varies among Chinese ethnic groups, including Miao (27.15%) and Han (25.28%).…”

Section: Discussionsupporting

confidence: 89%

“…However, we did not detect either of these variants in the Huaihua population. Moreover, c.1280G>A has been reported in Suzhou ( Wang et al, 2019 ), Shaoyang ( Zhou et al, 2022 ), and the Ningxia Hui nationality ( Mao et al, 2020 ). Consequently, the hotspot variants in different countries, regions, and ethnic groups are diverse; however, c.1280G>A may represent the most common variant in most ethnic groups in China.…”

Section: Discussionmentioning

confidence: 99%

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206,977 newborn screening results reveal the ethnic differences in the spectrum of inborn errors of metabolism in Huaihua, China

Xiao,

Feng,

et al. 2024

Front. Genet.

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BackgroundInborn errors of metabolism (IEMs) are rare diseases caused by inherited defects in various biochemical pathways that strongly correlate with early neonatal mortality and stunting. Currently, no studies have reported on the incidence of IEMs of multi-ethnic groups in Huaihua, China.MethodsA total of 206,977 neonates with self-reported ethnicity who underwent IEM screening at Huaihua from 2015 to 2021 were selected for observation. Among them, 69 suspected IEM-positive neonates were referred for urine gas chromatography-mass spectrometry analysis, biochemical detection, next-generation sequencing, and Sanger sequencing.ResultsSixty-nine newborns were diagnosed with IEMs, with an overall incidence of 1:3,000. The two most common disorders were 2-methylbutyryl glycinuria (1:7,137) and phenylalanine hydroxylase deficiency (1:22,997). Moreover, the incidence of IEMs in the minority ethnic group (Miao, Dong, Tujia and Yao) (1:1,852) was markedly higher than in the Han ethnic group (1:4,741). Some ethnic features variants were identified; NM_001609.4:c.1165A>G in the ACADSB gene for Miao and Dong ethnic groups, NM_014251.2:c.852_855del in the SLC25A13 gene for Miao ethnic groups.ConclusionThis study revealed the IEM incidence within the minority ethnic groups is markedly higher than among the Han nationality and the gene variant spectrum is dramatically different in Huaihua, China. Hence, It serves as a theoretical reference for the screening and diagnosing of neonatal IEMs of multi-ethnic groups in the Huaihua area, and across China.

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Section: Discussionsupporting

confidence: 89%

Section: Discussionmentioning

confidence: 99%

206,977 newborn screening results reveal the ethnic differences in the spectrum of inborn errors of metabolism in Huaihua, China

Xiao,

Feng,

et al. 2024

Front. Genet.

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“…IEM are characterized by many types of diseases, individually rare but collectively common, and obvious ethnic or regional differences (Mao et al, 2020 ; Mordaunt et al, 2020 ). About 40–50 thousand newborns with IEM are born each year in China (Yang et al, 2020 ).…”

Section: Discussionmentioning

confidence: 99%

Incidence and genetic variants of inborn errors of metabolism identified through newborn screening: A 7‐year study in eastern coastal areas of China

Men

Liu

Zheng

et al. 2023

Molec Gen & Gen Med

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Background The incidence of inborn errors of metabolism (IEM) varies across countries and areas. Currently, there are no studies on IEM using newborn screening (NBS) in eastern coastal areas of China. We aimed to estimate the incidence and genetic variants of IEM and understand the spectrum of diseases caused by IEM and variants among them in this area. Methods The NBS performed by tandem mass spectrometry (MS/MS) from 2016 to 2021 was retrospectively reviewed. Heel blood was collected from all newborns 72 h after birth. Targeted massively parallel sequencing was performed for genetic analysis. Results Among 245,194 newborns, 95 were diagnosed with IEM, the overall incidence observed was—IEM: 1/2581; amino acid metabolism disorder: 1/4715; organic acid metabolism disorder: 1/11676; and fatty acid metabolism disorder: 1/11145. The incidence of different IEM was in the range of 1/245194 to 1/6452. Phenylketonuria (PKU, 1/7211) was the most common IEM, followed by methylmalonic acidemia (MMA, 1/27244), short‐chain acyl‐CoA dehydrogenase deficiency (SCADD, 1/30649), and citrin deficiency (CD, 1/35028). For genetic variants, the common hotspot variants found were—PAH gene for PKU: c.728G > A, c.442‐1G > A, c.611A > G, c.721C > T; PTS gene for non‐classical PKU: c.259C > T; MMACHC gene for MMA: c.658_660delAAG, c.609G > A; MMUT gene for MMA: c.1663G > A; ACADS gene for SCADD: c.1031A > G and c.1130C > T; and SLC25A13 gene for CD: c.1638_1660dup, c.852_855del. Conclusion This study displayed the diseases and varied spectrum of IEM in eastern coastal areas of China. Implementing NBS for IEM by MS/MS combined with massively parallel sequencing can offer an improved plan for NBS to detect IEM.

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“…The distribution and types of PKU mutations have been widely recognized to exhibit significant regional and ethnic variations, making the study of PKU distribution and mutation types crucial for prenatal diagnosis and genetic counseling [27]. Our experimental data suggest that when conducting mutation analysis on patients with PKU, the 1st, 3rd, 6th, 7th, 10th, and 11th loci and exons can be preferentially selected for direct sequencing.…”

Section: Discussionmentioning

confidence: 89%

Mutation Characteristics of Phenylalanine Hydroxylase Gene in Children with Phenylketonuria in Yinchuan City

Yu¹,

Liu²,

Wei³

et al. 2023

Discovery Medicine

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Background: Phenylalanine hydroxylase deficiency (PAHD) is an autosomal recessive disorder affecting phenylalanine (Phe) metabolism caused by mutations in the phenylalanine hydroxylase (PAH) gene. It has a complex phenotype with many variants and genotypes in various populations. This study sets out to analyze the screening results of children with phenylketonuria (PKU) in Yinchuan City and characterize the mutation variants of the PAH gene. Methods: Phenylketonuria screening results were retrospectively analyzed in 398,605 neonates (207,361 males and 191,244 females) born in different maternity hospitals in Yinchuan City between January 2017 and December 2021. Screening for genetic metabolic diseases was performed with parental consent at their own expense. A comprehensive diagnosis was performed by integrating tandem mass spectrometry (MS/MS) findings with clinical presentations. High-throughput sequencing (HTS) was used to detect genetic and metabolic disease-associated genes in children with PKU who were clinically diagnosed and voluntarily tested. The identified loci were validated through Sanger sequencing and parental verification. Results: Among the screened newborns, 45 (11.3/100,000) PKU cases were diagnosed. In the 38 cases that underwent selffinanced PAH sequencing, 56 mutations were detected in 76 chromosomes, with an overall detection rate of 73.7%. All patients harbored mutant genes, and the 56 mutations detected identified represented 14 variants, including 8 missense mutations, 2 splicing mutations, 2 nonsense mutations, and 2 silent mutations. The mutations were primarily distributed in exons 2, 3, 6, 7, 9, 11, and intron 4, with the highest frequency observed in exon 7 (25 [44.7%]), followed by exon 11 (15 [26.7%]). The most prevalent mutations were exon 7-p.R252W (10 [17.9%]) and exon 7-p.R261Q (8 [14.3%]). Conclusions: The PAH gene mutations in children with PKU in Yinchuan City are predominantly concentrated in exons 6, 7, and 11, with the highest detection rates observed for p.R252W and p.R261Q mutations.

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Ethnic preference distribution of inborn errors of metabolism: A 4-year study in a multi-ethnic region of China

Cited by 4 publications

References 32 publications

206,977 newborn screening results reveal the ethnic differences in the spectrum of inborn errors of metabolism in Huaihua, China

206,977 newborn screening results reveal the ethnic differences in the spectrum of inborn errors of metabolism in Huaihua, China

Incidence and genetic variants of inborn errors of metabolism identified through newborn screening: A 7‐year study in eastern coastal areas of China

Mutation Characteristics of Phenylalanine Hydroxylase Gene in Children with Phenylketonuria in Yinchuan City

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