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CASE REPORT article

Front. Pediatr.
Sec. Genetics of Common and Rare Diseases
Volume 12 - 2024 | doi: 10.3389/fped.2024.1493380

SMARCA4-related Coffin-Siris Syndrome in newborn: a case report and literature review

Provisionally accepted
Yuqian Wang Yuqian Wang Li Zhang Li Zhang Jing Zhu Jing Zhu Liu Yang Liu Yang Chan Wang Chan Wang *Ning Zou Ning Zou *
  • Second Affiliated Hospital of Dalian Medical University, Dalian, China

The final, formatted version of the article will be published soon.

    Objective: Our objective was to examine the clinical and genetic features of Coffin-Siris syndrome resulting from a pathogenic variant in the SMARCA4 gene.The clinical data and molecular genetic test results of a newbron with Coffin-Siris syndrome involving a pathogenic variant in the SMARCA4 gene were retrospectively analyzed, and the related literatures were reviewed.Results: A newborn exhibited inspiratory dyspnea following birth and developmental anomalies (coarse appearance, thick hair, long eyelashes, broad nasal tip, flat nasal bridge, thin upper lip, thick lower lip, digital anomalies, cleft palate, supraglottic laryngeal chondromalacia, stenosis of the left upper bronchus and hypotonia). Whole exome sequencing revealed a heterozygous missense variant in SMARCA4 gene (NM_003072.5 c.3127C>T, p.Arg1043Trp). Parents did not find the above pathogenic variant, which was a new pathogenic variant. In addition to our case, we also retrieved 22 cases of Coffin-Siris Syndrome in SMARCA4 gene variation, which is a congenital multi-system dysfunction syndrome characterized by abnormal appearance and developmental retardation. The common otolaryngologic features of 23 patients with CSS in SMARCA4 gene variant included palate abnormalities, feeding difficulties, ear abnormalities and hearing loss.

    Keywords: Coffin-Siris syndrome, SMARCA4, Genetic abnormality, Whole-exome sequencing, otorhinolaryngologic malformations

    Received: 17 Sep 2024; Accepted: 31 Dec 2024.

    Copyright: © 2024 Wang, Zhang, Zhu, Yang, Wang and Zou. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

    * Correspondence:
    Chan Wang, Second Affiliated Hospital of Dalian Medical University, Dalian, China
    Ning Zou, Second Affiliated Hospital of Dalian Medical University, Dalian, China

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