-related Coffin-Siris Syndrome in Newborn: a Case Report and Literature Review

Overview

Journal Front Pediatr

Date 2025 Feb 5

PMID 39906730

Authors

Yuqian Wang

Li Zhang

Jing Zhu

Liu Yang

Chan Wang

Ning Zou

Affiliations

Soon will be listed here.

Abstract

Objective: Our objective was to examine the clinical and genetic features of Coffin-Siris syndrome resulting from a pathogenic variant in the gene.

Methods: The clinical data and molecular genetic test results of a newbron with Coffin-Siris syndrome involving a pathogenic variant in the 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 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 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 gene variant included palate abnormalities, feeding difficulties, ear abnormalities and hearing loss.

Conclusion: Coffin-Siris syndrome is a rare genetic disease inherited in an autosomal-dominated manner. It is often associated with malformations in the otorhinolaryngologic system. This case has many common features with previously reported CSS cases with pathogenic variant in the gene, which further characterizes the performance of the pathogenic variant, suggesting that palatal abnormalities may be a significant feature of the genotype. For patients with developmental abnormalities, whole-genome sequencing or whole-exome sequencing is particularly important to assist diagnosis. Currently, there is no known treatment for CSS, and individuals with CSS experience various complications affecting multiple systems.

References

Tsurusaki Y, Okamoto N, Ohashi H, Mizuno S, Makita Y, Fukuda M . Coffin-Siris syndrome is a SWI/SNF complex disorder. Clin Genet. 2013; 85(6):548-54. DOI: 10.1111/cge.12225. View

Kosho T, Miyake N, Carey J . Coffin-Siris syndrome and related disorders involving components of the BAF (mSWI/SNF) complex: historical review and recent advances using next generation sequencing. Am J Med Genet C Semin Med Genet. 2014; 166C(3):241-51. DOI: 10.1002/ajmg.c.31415. View

Sekiguchi F, Tsurusaki Y, Okamoto N, Teik K, Mizuno S, Suzumura H . Genetic abnormalities in a large cohort of Coffin-Siris syndrome patients. J Hum Genet. 2019; 64(12):1173-1186. DOI: 10.1038/s10038-019-0667-4. View

Tzeng M, du Souich C, Cheung H, Boerkoel C . Coffin-Siris syndrome: phenotypic evolution of a novel SMARCA4 mutation. Am J Med Genet A. 2014; 164A(7):1808-14. PMC: 5671763. DOI: 10.1002/ajmg.a.36533. View

He Z, Brazovskaja A, Ebert S, Camp J, Treutlein B . CSS: cluster similarity spectrum integration of single-cell genomics data. Genome Biol. 2020; 21(1):224. PMC: 7460789. DOI: 10.1186/s13059-020-02147-4. View

Mitrakos A, Lazaros L, Pantou A, Mavrou A, Kanavakis E, Tzetis M . Coffin-Siris Syndrome 4-Related Spectrum in a Young Woman Caused by a Heterozygous Deletion Detected by High-Resolution aCGH. Mol Syndromol. 2020; 11(3):141-145. PMC: 7445571. DOI: 10.1159/000508563. View

Vergano S, Deardorff M . Clinical features, diagnostic criteria, and management of Coffin-Siris syndrome. Am J Med Genet C Semin Med Genet. 2014; 166C(3):252-6. DOI: 10.1002/ajmg.c.31411. View

Reed L, Grady A, Wilson C, Stocks R . SMARCE1-related Coffin-Siris Syndrome: Case report and otolaryngologic manifestations of the syndrome. Int J Pediatr Otorhinolaryngol. 2019; 128:109735. DOI: 10.1016/j.ijporl.2019.109735. View

Houb-Dine A, Jalila H, Zaoui F, Benkaddour A . Oral and dental abnormalities in Coffin Siris syndrome : A new case report. Tunis Med. 2024; 101(4):456-459. PMC: 11217953. View

10.

Hoyer J, Ekici A, Endele S, Popp B, Zweier C, Wiesener A . Haploinsufficiency of ARID1B, a member of the SWI/SNF-a chromatin-remodeling complex, is a frequent cause of intellectual disability. Am J Hum Genet. 2012; 90(3):565-72. PMC: 3309205. DOI: 10.1016/j.ajhg.2012.02.007. View

11.

Li D, Ahrens-Nicklas R, Baker J, Bhambhani V, Calhoun A, Cohen J . The variability of SMARCA4-related Coffin-Siris syndrome: Do nonsense candidate variants add to milder phenotypes?. Am J Med Genet A. 2020; 182(9):2058-2067. DOI: 10.1002/ajmg.a.61732. View

12.

Liu M, Wan L, Wang C, Yuan H, Peng Y, Wan N . Coffin-Siris syndrome in two chinese patients with novel pathogenic variants of ARID1A and SMARCA4. Genes Genomics. 2022; 44(9):1061-1070. DOI: 10.1007/s13258-022-01231-2. View

13.

Kosho T, Okamoto N . Genotype-phenotype correlation of Coffin-Siris syndrome caused by mutations in SMARCB1, SMARCA4, SMARCE1, and ARID1A. Am J Med Genet C Semin Med Genet. 2014; 166C(3):262-75. DOI: 10.1002/ajmg.c.31407. View

14.

Ciliberto M, Skjei K, Vasko A, Schrier Vergano S . Epilepsy in Coffin-Siris syndrome: A report from the international CSS registry and review of the literature. Am J Med Genet A. 2022; 191(1):22-28. DOI: 10.1002/ajmg.a.62979. View

15.

Qian Y, Zhou Y, Wu B, Chen H, Xu S, Wang Y . Novel Variants of the SMARCA4 Gene Associated with Autistic Features Rather Than Typical Coffin-Siris Syndrome in Eight Chinese Pediatric Patients. J Autism Dev Disord. 2021; 52(11):5033-5041. DOI: 10.1007/s10803-021-05365-2. View

16.

Bilha S, Teodoriu L, Velicescu C, Caba L . Pituitary hypoplasia and growth hormone deficiency in a patient with Coffin-Siris syndrome and severe short stature: case report and literature review. Arch Clin Cases. 2022; 9(3):121-125. PMC: 9512126. DOI: 10.22551/2022.36.0903.10216. View

17.

Wu R, Tang W, Li P, Meng Z, Li X, Liang L . Identification of a novel phenotype of external ear deformity related to Coffin-Siris syndrome-9 and literature review. Am J Med Genet A. 2024; 194(8):e63626. DOI: 10.1002/ajmg.a.63626. View

18.

Tsurusaki Y, Okamoto N, Ohashi H, Kosho T, Imai Y, Hibi-Ko Y . Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome. Nat Genet. 2012; 44(4):376-8. DOI: 10.1038/ng.2219. View

19.

Dsouza N, Zimmermann M, Geddes G . A case of Coffin-Siris syndrome with severe congenital heart disease and a novel variant. Cold Spring Harb Mol Case Stud. 2019; 5(3). PMC: 6549553. DOI: 10.1101/mcs.a003962. View

20.

Zhang R, Zhang J, Zhang X, Ma J, Wang S, Li Y . Cyano-substituted stilbene (CSS)-based conjugated polymers: Photophysical properties exploration and applications in photodynamic therapy. Biomaterials. 2022; 291:121885. DOI: 10.1016/j.biomaterials.2022.121885. View