Newborn screening results for inherited metabolic disorders and four common deafness-associated genes in Shannan, Tibet, China

GUO Zhi; QU Zhen; CHEN Jun; YUZHU Lamu; QI Gui; DE Qing; DU Baoting; WANG Shengzhen; LAMU Zhuoma; GUI Sang; YAN Jin; WANG Xianwang; YANG Hui; GONG Quan

doi:10.11852/zgetbjzz2025-0707

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Chinese Journal of Child Health Care ›› 2026, Vol. 34 ›› Issue (11) : 1189-1195. DOI: 10.11852/zgetbjzz2025-0707

Birth Defect Screening and Genetic Diagnosis

Newborn screening results for inherited metabolic disorders and four common deafness-associated genes in Shannan, Tibet, China

GUO Zhi¹, QU Zhen², CHEN Jun², YUZHU Lamu³, QI Gui¹, DE Qing², DU Baoting², WANG Shengzhen², LAMU Zhuoma², GUI Sang³, YAN Jin¹, WANG Xianwang¹, YANG Hui¹, GONG Quan¹

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Abstract

Objective To analyze the mutation profiles of 48 inherited metabolic disorders (IMDs) and 4 common deafness-associated genes among newborns in Shannan, Tibet, in order to provide baseline data for early screening and prevention of genetic diseases in high-altitude regions. Methods Live-born neonates delivered in 12 health service centers in the Shannan region between December 15, 2021, and December 31, 2022, were enrolled. Tandem mass spectrometry was performed in 1 456 newborns to measure amino acids, organic acids, and fatty-acid metabolites. In addition, 1 497 newborns were screened for 20 common variants in four deafness-associated genes (GJB2, GJB3, SLC26A4, and MT-RNR1). Screening results were summarized descriptively. Results The initial positive screening rate for IMDs was 1.79% (26/1 456), covering nine categories of suspected IMDs/abnormal screening profiles. Hyperphenylalaninemia (8 cases, 34.6%, including 1 suspected case) was the most prevalent, followed by propionic acidemia/methylmalonic acidemia (7 cases, 26.9%) and primary carnitine transporter deficiency (4 cases, 15.4%). The positive screening rate for the four deafness genes was 1.74% (26/1 497). MT-RNR1 variants were the most frequent (14 cases, 53.8%), followed by GJB2 variants (8 cases, 30.8%). Conclusions The initial positive rate of IMD screening in Shannan is higher than the national average and reported in Qinghai, another plateau region of China, and the carrier rate of common deafness genes is lower than the national average. This study provides a scientific reference for optimizing newborn screening strategies and preventing genetic diseases in high-altitude regions.

Key words

inherited metabolic disorders / deafness gene / newborn screening / high-altitude areas

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GUO Zhi, QU Zhen, CHEN Jun, YUZHU Lamu, QI Gui, DE Qing, DU Baoting, WANG Shengzhen, LAMU Zhuoma, GUI Sang, YAN Jin, WANG Xianwang, YANG Hui, GONG Quan. Newborn screening results for inherited metabolic disorders and four common deafness-associated genes in Shannan, Tibet, China[J]. Chinese Journal of Child Health Care. 2026, 34(11): 1189-1195 https://doi.org/10.11852/zgetbjzz2025-0707

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