Commentary on the mutation spectrum of and founder effects affecting the PTS gene in East-Asian populations

Shintaku, Haruo

doi:10.1038/jhg.2011.153

J Hum Genet

2012

DOI: 10.1038/jhg.2011.153

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Commentary on the mutation spectrum of and founder effects affecting the PTS gene in East-Asian populations

Haruo Shintaku

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2023

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Results of neonatal screening for congenital hypothyroidism and hyperphenylalaninemia in Zhejiang province from 1999 to 2022

ZHOU,

YANG,

HUANG

2023

J Zhejiang Univ (Med Sci)

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目的了解浙江省新生儿先天性甲状腺功能减退症（CH）及高苯丙氨酸血症（HPA）的筛查及发病情况。方法收集1999年9月至2022年12月浙江省新生儿疾病筛查中心11 922 318名新生儿血促甲状腺素（TSH）及苯丙氨酸（Phe）检测的资料。其中，血TSH浓度采用荧光法检测，血Phe浓度采用荧光法或串联质谱法检测。TSH在9 μIU/mL及以上的新生儿为CH筛查阳性，血Phe浓度超过120 μmol/L和（或）血Phe与酪氨酸（Tyr）比值大于2.0为HPA筛查阳性，召回复查。采用高通量测序和MassARRAY技术检测基因变异。结果 1999—2022年共筛查新生儿11 922 318名，总筛查率为89.41%，筛查率由1999年6.46%提升至2022年的100.00%。检出CH患儿8924例，患病率为1/1336，检出HPA患儿563例，患病率为1/21 176，其中508例为经典型苯丙酮尿症（cPKU），55例为四氢生物蝶呤缺乏症（BH4D）。97例CH患儿完善基因检测，检出9种CH相关基因，双氧化酶2（DUOX2）基因检出频率最高（69.0%），其中c.3329G>A（p.R1110Q）（18.2%）和c.1588A>T（p.K530X）（17.3%）为热点突变。250例cPKU患者中检出81种苯丙氨酸羟化酶（PAH）基因变异，其中c728G>A（p.R243Q）（24.4%）和c.721C>T（p.R241C）（15.0%）为热点突变，7种为新发变异：c.107C>A（p.S36*）、c.137G>T（p.G46V）、c.148A>G（p.K50E）、c.285C>T（p.I95I）、c.843-10delTTCC、exon4-7del和c.1066-2A>G。36例BH4D患者中检出12种6-丙酮酰四氢蝶呤合成酶（PTS）基因变异，热点突变为c.259C>T（p.P87S）（31.9%）。结论浙江省新生儿筛查率逐年升高，CH发病率明显增高，HPA发病率与全国平均水平接近。 DUOX2 基因变异为CH患儿最常见基因变异，c728G>A（p.R243Q）为cPKU患者的热点突变，c.259C>T（p.P87S）为BH4D患者的热点突变。

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Results of neonatal screening for congenital hypothyroidism and hyperphenylalaninemia in Zhejiang province from 1999 to 2022

ZHOU,

YANG,

HUANG

2023

J Zhejiang Univ (Med Sci)

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Commentary on the mutation spectrum of and founder effects affecting the PTS gene in East-Asian populations

Cited by 1 publication

References 8 publications

Results of neonatal screening for congenital hypothyroidism and hyperphenylalaninemia in Zhejiang province from 1999 to 2022

Results of neonatal screening for congenital hypothyroidism and hyperphenylalaninemia in Zhejiang province from 1999 to 2022

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