Evidence map›Paper›PMID 40695512›Full record

ArticleZhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics2025

[Genetic profiling and intervention strategies for phenylketonuria in Gansu, China: an analysis of 1 159 cases].

Chuan Zhang, Pei Zhang, Bing-Bo Zhou, Xing Wang, Lei Zheng, Xiu-Jing Li, Jin-Xian Guo, Pi-Liang Chen, Ling Hui, Zhen-Qiang DA and 1 more

Abstract readEnglish Abstract
PubMed Full text at PMC Publisher
In one paragraph

Article in Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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4 · The record

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5 · Who and what money

Authors and funding

11 authors.

Chuan ZhangGansu Provincial Maternity and Child Care Hospital/Gansu Provincial Central Hospital/Gansu Provincial Clinical Research Center for Birth Defects and Rare Diseases, Lanzhou 730050, China.
Pei Zhang
Bing-Bo ZhouGansu Provincial Maternity and Child Care Hospital/Gansu Provincial Central Hospital/Gansu Provincial Clinical Research Center for Birth Defects and Rare Diseases, Lanzhou 730050, China.
Xing WangGansu Provincial Maternity and Child Care Hospital/Gansu Provincial Central Hospital/Gansu Provincial Clinical Research Center for Birth Defects and Rare Diseases, Lanzhou 730050, China.
Lei ZhengGansu Provincial Maternity and Child Care Hospital/Gansu Provincial Central Hospital/Gansu Provincial Clinical Research Center for Birth Defects and Rare Diseases, Lanzhou 730050, China.
Xiu-Jing LiGansu Provincial Maternity and Child Care Hospital/Gansu Provincial Central Hospital/Gansu Provincial Clinical Research Center for Birth Defects and Rare Diseases, Lanzhou 730050, China.
Jin-Xian GuoGansu Provincial Maternity and Child Care Hospital/Gansu Provincial Central Hospital/Gansu Provincial Clinical Research Center for Birth Defects and Rare Diseases, Lanzhou 730050, China.
Pi-Liang ChenGansu Provincial Maternity and Child Care Hospital/Gansu Provincial Central Hospital/Gansu Provincial Clinical Research Center for Birth Defects and Rare Diseases, Lanzhou 730050, China.
Ling HuiGansu Provincial Maternity and Child Care Hospital/Gansu Provincial Central Hospital/Gansu Provincial Clinical Research Center for Birth Defects and Rare Diseases, Lanzhou 730050, China.
Zhen-Qiang DAGansu Provincial Maternity and Child Care Hospital/Gansu Provincial Central Hospital/Gansu Provincial Clinical Research Center for Birth Defects and Rare Diseases, Lanzhou 730050, China.
You-Sheng YanGansu Provincial Maternity and Child Care Hospital/Gansu Provincial Central Hospital/Gansu Provincial Clinical Research Center for Birth Defects and Rare Diseases, Lanzhou 730050, China.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

objectivesTo investigate the molecular epidemiology of children with phenylketonuria (PKU) in Gansu, China, providing foundational data for intervention strategies.

methodsA retrospective analysis was conducted on 1 159 PKU families who attended Gansu Provincial Maternity and Child Care Hospital from January 2012 to December 2024. Sanger sequencing, multiplex ligation-dependent probe amplification, whole exome sequencing, and deep intronic variant analysis were used to analyze the

resultsFor the 1 159 children with PKU, 2 295 variants were identified in 2 318 alleles, resulting in a detection rate of 99.01%. The detection rates were 100% (914/914) in 457 classic PKU families, 99.45% (907/912) in 456 mild PKU families, and 96.34% (474/492) in 246 mild hyperphenylalaninemia families. The 2 295 variants detected comprised 208 distinct mutation types, among which c.728G>A (14.95%, 343/2 295) had the highest frequency, followed by c.611A>G (4.88%, 112/2 295) and c.721C>T (4.79%, 110/2 295). The cumulative frequency of the top 23 hotspot variants reached 70.28% (1 613/2 295), and most variant alleles were detected in exon 7 (29.19%, 670/2 295).

conclusionsDeep intronic variant analysis of the

Indexed as

PhenylketonuriasChildChild, PreschoolChinaFemaleHumansInfantMaleMutationPhenylalanine HydroxylaseRetrospective StudiesPhenylalanine HydroxylaseChildDeep intronic variant analysisGenetic diagnosisGene variantPhenylketonuriaPrecision screening

Identifiers

PMID40695512
PMCPMC12291574

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