Clinical application of whole exome sequencing technology in small-for-gestational-age children.

Yunyun Xie, Xiaolu Qiu, Jun Gong, Yufeng Yuan, Dan Xie, Shouming Li

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Article in American journal of translational research, 2023. 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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6 authors.

Yunyun XieDepartment of Children Health, Jiangxi Provincial Children's Hospital Nanchang 330006, Jiangxi, China.

Xiaolu QiuDepartment of Children Health, Jiangxi Provincial Children's Hospital Nanchang 330006, Jiangxi, China.

Jun GongDepartment of Children Health, Jiangxi Provincial Children's Hospital Nanchang 330006, Jiangxi, China.

Yufeng YuanDepartment of Children Health, Jiangxi Provincial Children's Hospital Nanchang 330006, Jiangxi, China.

Dan XieDepartment of Children Health, Jiangxi Provincial Children's Hospital Nanchang 330006, Jiangxi, China.

Shouming LiDepartment of Children Health, Jiangxi Provincial Children's Hospital Nanchang 330006, Jiangxi, China.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

aimTo apply whole exome sequencing (WES) for molecular diagnosis of small-for-gestational-age (SGA) children.

methodsWe retrospectively analyzed the data of 60 SGA children in our hospital, and performed developmental assessment, laboratory tests, imaging tests, and whole exome sequencing (WES), which were combined with clinical phenotypes to clarify the pathogenicity of the variant genes in the children.

resultsSixty SGA children were tested, and pathogenic SGA was detected at relatively high frequencies on chromosomes 7, 8, and 22. Of these, karyotype analysis clearly suggested developmental disorders in 4 patients. Also, a case of Wiedemann-Steiner syndrome due to a de novo nonsense variant in the KMT2A gene was detected.

conclusionsThe use of WES testing technology to increase the diagnosis rate of children with special SGA is conducive to the correct diagnosis and treatment of such children.

Indexed as

clinical applicationsmall-for-gestational-age infantWhole exome sequencing technology

Identifiers

PMID38186994

PMCPMC10767522

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.