Genotype characterization of tetrahydrobiopterin deficiency in two Tibetan children

Zhu, Shuyao; Hu, Qi; Yang, Yunxia; Zhu, Hui; Wang, Jin; Luo, Zemin; Ou, Mincai; Chen, Ai; Huang, Yu; Xiong, Fu; Zhou, Jiaji; Liu, Jinglin; Lei, Xunming; Zeng, Lan

doi:10.1016/j.heliyon.2024.e27050

Heliyon

2024

DOI: 10.1016/j.heliyon.2024.e27050

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Genotype characterization of tetrahydrobiopterin deficiency in two Tibetan children

Shuyao Zhu,

Qi Hu,

Yunxia Yang

et al.

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Proximal 4p Deletion Syndrome in an Infant With Multiple Systemic Anomalies

Pang,

Zeng,

Liang

et al. 2024

Molec Gen & Gen Med

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BackgroundContiguous gene deletion in the short arm of chromosome 4 is linked to various neurodevelopmental disorders.MethodsIn this study, we conducted peripheral blood chromosome G‐banding karyotyping and whole‐exome sequencing (WES) on a proband presenting with anal atresia, global developmental delay, lymphocytosis, and other multisystem anomalies. Additionally, chromosome G‐banding karyotyping was also carried out on the proband's parents and brother.ResultsThe 7‐month‐old proband was found to have a 26.738 Mb 4p15.33‐p14 deletion as identified by chromosome G‐banding karyotyping and WES.ConclusionWe identified a patient with proximal 4p deletion syndrome by karyotype and WES analysis, which might explain some of his phenotypes. Our research enhances clinicians' knowledge of this rare condition, and offers valuable genetic counseling to the affected family. Further research is necessary to identify the causative gene or critical region associated with proximal 4p deletion syndrome.

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Proximal 4p Deletion Syndrome in an Infant With Multiple Systemic Anomalies

Pang,

Zeng,

Liang

et al. 2024

Molec Gen & Gen Med

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show abstract

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Genotype characterization of tetrahydrobiopterin deficiency in two Tibetan children

Cited by 1 publication

References 13 publications

Proximal 4p Deletion Syndrome in an Infant With Multiple Systemic Anomalies

Proximal 4p Deletion Syndrome in an Infant With Multiple Systemic Anomalies

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