Top

BMC Pediatrics

Published in:

Open Access 01-12-2022 | Disorders of Intellectual Development | Case report

Short stature and melanocytic nevi in a girl with ARID1B-related Coffin-Siris syndrome: a case report

Authors: Dong-Ying Tao, Huan-Hong Niu, Jing-Jing Zhang, Hui-Qin Zhang, Ming-Hua Zeng, Sheng-Quan Cheng

Published in: BMC Pediatrics | Issue 1/2022

Abstract

Background

Coffin-Siris syndrome (CSS) is a rare autosomal dominant disorder characterized by intellectual disability, developmental delay, and characteristic facial features. Few patients with cutaneous phenotype in this rare syndrome have been reported.

Case presentation

Herein, we describe a 12-year-old Chinese girl diagnosed with CSS, who was referred to our hospital because of intellectual disability and short stature. Prominent characteristics of the cutaneous system were observed: (1) A congenital giant nevus from the left frontal and temporal regions to the entire left scalp; and (2) multiple melanocytic nevi on the face and trunk. Whole exome sequencing revealed a novel heterozygous variant in the ARID1B gene. Recombinant human growth hormone (rhGH) was given for short stature, and resulted in significantly improved height. No enlargement or malignant transformation of nevi occurred within 4 years of follow-up.

Conclusion

The symptoms in cutaneous system is noteworthy,which may be a neglected phenotype in CSS.The therapeutic response of growth hormone is effective in this patient and no tumor related signs were found.

Available only for authorised users

Santen GW, Aten E, Vulto-van Silfhout AT, Pottinger C, van Bon BW, van Minderhout IJ, et al. Coffin-Siris syndrome and the BAF complex: genotype-phenotype study in 63 patients. Hum Mutat. 2013;34:1519–28. https://doi.org/10.1002/humu.22394] (PMID: 23929686).CrossRefPubMed

Vasileiou G, Vergarajauregui S, Endele S, Popp B, Büttner C, Ekici AB, et al. Mutations in the BAF-Complex Subunit DPF2 Are Associated with Coffin-Siris Syndrome. Am J Hum Genet. 2018;102:468–79. https://doi.org/10.1016/j.ajhg.2018.01.014 (PMID: 29429572).CrossRefPubMedPubMedCentral

Tsurusaki Y, Okamoto N, Ohashi H, Mizuno S, Matsumoto N, Makita Y, et al. Coffin-Siris syndrome is a SWI/SNF complex disorder. Clin Genet. 2014;85:548–54. https://doi.org/10.1111/cge.12225 (PMID: 23815551).CrossRefPubMed

Fleck BJ, Pandya A, Vanner L, Kerkering K, Bodurtha J. Coffin-Siris syndrome: review and presentation of new cases from a questionnaire study. Am J Med Genet. 2001;99:1–7. https://doi.org/10.1002/1096-8628(20010215)99:1%3c1::aid-ajmg1127%3e3.0.co;2-a (PMID: 11170086).

Coffin GS, Siris E. Mental retardation with absent fifth fingernail and terminal phalanx. Am J Dis Child. 1970;119:433–9. https://doi.org/10.1001/archpedi.1970.02100050435009 (PMID: 5442442).CrossRefPubMed

Tchanque-Fossuo CN, Dahle SE, Kiuru M, Isseroff RR. Vitiligo and melanocytic nevi: New findings in Coffin-Siris syndrome associated with ARID1 germline mutation. JAAD Case Rep. 2019;5:50–3. https://doi.org/10.1016/j.jdcr.2018.08.024 (PMID: 30581937).CrossRefPubMed

Khazanchi R, Ronspies CA, Smith SC, Starr LJ. Patient with anomalous skin pigmentation expands the phenotype of ARID2 loss-of-function disorder, a SWI/SNF-related intellectual disability. Am J Med Genet A. 2019;179:808–12. https://doi.org/10.1002/ajmg.a.61075 (PMID: 30838730).CrossRefPubMed

Hida T, Ishikawa A, Mizukami M, Uhara H. Koebner phenomenon of vitiligo associated with Coffin-Siris syndrome. Eur J Dermatol. 2020;30:310–1. https://doi.org/10.1684/ejd.2020.3778 (PMID: 32666931).

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, et al. ACMG Laboratory Quality Assurance Committee. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015;17:405–24. https://doi.org/10.1038/gim.2015.30 (PMID: 25741868).CrossRefPubMedPubMedCentral

10.

van der Sluijs PJ, Jansen S, Vergano SA, Adachi-Fukuda M, Alanay Y, AlKindy A, et al. The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome. Genet Med. 2019;21:1295–307. https://doi.org/10.1038/s41436-018-0330-z (PMID: 30349098).CrossRefPubMed

11.

Andrade AC, Jee YH, Nilsson O. New Genetic Diagnoses of Short Stature Provide Insights into Local Regulation of Childhood Growth. Horm Res Paediatr. 2017;88:22–37. https://doi.org/10.1159/000455850 (PMID: 28334714).CrossRefPubMed

12.

Grimberg A, DiVall SA, Polychronakos C, David BA, Cohen LE, Quintos JB, et al. Guidelines for Growth Hormone and Insulin-Like Growth Factor-I Treatment in Children and Adolescents: Growth Hormone Deficiency, Idiopathic Short Stature, and Primary Insulin-Like Growth Factor-I Deficiency. Horm Res Paediatr. 2016;86:361–97. https://doi.org/10.1159/000452150 (PMID: 27884013).CrossRefPubMed

13.

Kosho T, Okamoto N. Coffin-Siris Syndrome International Collaborators. 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:262–75. https://doi.org/10.1002/ajmg.c.31407 (PMID: 25168959).CrossRefPubMed

14.

Holsten T, Bens S, Oyen F, Nemes K, Hasselblatt M, Kordes U, et al. Germline variants in SMARCB1 and other members of the BAF chromatin-remodeling complex across human disease entities: a meta-analysis. Eur J Hum Genet. 2018;26:1083–93. https://doi.org/10.1038/s41431-018-0143-1 (PMID: 29706634).CrossRefPubMedPubMedCentral

15.

Vengoechea J, Carpenter L, Zárate YA. Papillary thyroid cancer in a patient with interstitial 6q25 deletion including ARID1B. Am J Med Genet A. 2014;164A:1857–9. https://doi.org/10.1002/ajmg.a.36515 (PMID: 24700687).CrossRefPubMed

16.

Wu J, Keng VW, Patmore DM, Kendall JJ, Patel AV, Jousma E, et al. Insertional Mutagenesis Identifies a STAT3/Arid1b/β-catenin Pathway Driving Neurofibroma Initiation. Cell Rep. 2016;14:1979–90. https://doi.org/10.1016/j.celrep.2016.01.074 (PMID: 26904939).CrossRefPubMedPubMedCentral

17.

Takeo M, Lee W, Rabbani P, Sun Q, Hu H, Lim CH, et al. EdnrB Governs Regenerative Response of Melanocyte Stem Cells by Crosstalk with Wnt Signaling. Cell Rep. 2016;15:1291–302. https://doi.org/10.1016/j.celrep.2016.04.006 (PMID: 27134165).CrossRefPubMedPubMedCentral

Title: Short stature and melanocytic nevi in a girl with ARID1B-related Coffin-Siris syndrome: a case report
Authors: Dong-Ying Tao
Huan-Hong Niu
Jing-Jing Zhang
Hui-Qin Zhang
Ming-Hua Zeng
Sheng-Quan Cheng
Publication date: 01-12-2022
Publisher: BioMed Central
Keywords: Disorders of Intellectual Development
Nevi
Intellectual Disability
Vitiligo
Published in: BMC Pediatrics / Issue 1/2022
Electronic ISSN: 1471-2431
DOI: https://doi.org/10.1186/s12887-022-03535-4

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Short stature and melanocytic nevi in a girl with ARID1B-related Coffin-Siris syndrome: a case report

Abstract

Background

Case presentation

Conclusion

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Abstract

Background

Case presentation

Conclusion

Please log in to get access to this content

Other articles of this Issue 1/2022

Clinical characteristics and prognosis of pediatric myelin oligodendrocyte glycoprotein antibody-associated diseases in China

Risk-stratification in febrile infants 29 to 60 days old: a cost-effectiveness analysis

Feasibility of a randomized controlled trial of a proprioceptive and tactile vest intervention for children with challenges integrating and processing sensory information

‘The baby will have the right beginning’: a qualitative study on mother and health worker views on point-of-care HIV birth testing across 10 sites in Zimbabwe

Application of coagulation parameters at the time of necrotizing enterocolitis diagnosis in surgical intervention and prognosis

Diagnosis and treatment of splenic torsion in children: preoperative thrombocytosis predicts splenic infarction