Coffin–Siris Syndrome in a Patient with Hirschsprung's Disease—Expanding the Phenotype by Mutation ARID1B: A Case Report and Literature Review

Abstract

Coffin–Siris syndrome (CSS) is a rare syndrome with autosomal dominant inheritance, and it is characterized by intellectual disability, hypotonia, aplasia/hypoplasia of the distal phalanx of fifth fingernail, feeding difficulties, growth restriction, short stature, speech delay, hirsutism/hypertrichosis, and thinning hair on the scalp. Hearing impairment has also been described in some patients. In this article, we describe the case of a male patient diagnosed with CSS who, at 15 days of life, underwent surgery for megacolon correction and a later intestinal biopsy revealed the affected segment compatible with Hirschsprung's disease (HSCR). This patient was found to have a variant in ARID1B (p. [Pro934Glnfs*5]) in a component of the BAF complex which plays an important role in regulating the expression and differentiation. In addition, it mediates responses to environmental signals resulting from an ATP-dependent chromatin remodeling complex. This case added a unique clinical characteristics and a rare genetic variant in the repertoire of CSS.

Keywords

Coffin–Siris syndrome - Hirschsprung's disease - mutation ARID1B - magnetic resonance imaging

Publikationsverlauf

Eingereicht: 17. Oktober 2022

Angenommen: 30. Juni 2022

Artikel online veröffentlicht:
15. September 2022

• References

• 1 van der Sluijs PJ, Jansen S, Vergano SA. et al. The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome. Genet Med 2019; 21 (06) 1295-1307
• 2 Schrier SA, Bodurtha JN, Burton B. et al. The Coffin-Siris syndrome: a proposed diagnostic approach and assessment of 15 overlapping cases. Am J Med Genet A 2012; 158A [phone]
• 3 Santen GW, Aten E, Vulto-van Silfhout AT. et al; Coffin-Siris consortium. Coffin-Siris syndrome and the BAF complex: genotype-phenotype study in 63 patients. Hum Mutat 2013; 34 (11) 1519-1528
• 4 Schrier Vergano S, Santen G, Wieczorek D, Wollnik B, Matsumoto N, Deardorff MA. Coffin-Siris syndrome. In: Adam MP, Ardinger HH, Pagon RA, et al, eds. GeneReviews [Internet]. Seattle, WA: University of Washington, Seattle; 2013: 1993-2022
• 5 Miyake N, Tsurusaki Y, Matsumoto N. Numerous BAF complex genes are mutated in Coffin-Siris syndrome. Am J Med Genet C Semin Med Genet 2014; 166C [phone]
• 6 Kosho T, Okamoto N, Ohashi H. et al. Clinical correlations of mutations affecting six components of the SWI/SNF complex: detailed description of 21 patients and a review of the literature. Am J Med Genet A 2013; 161A [phone]
• 7 Kelso TWR, Porter DK, Amaral ML, Shokhirev MN, Benner C, Hargreaves DC. Chromatin accessibility underlies synthetic lethality of SWI/SNF subunits in ARID1A-mutant cancers. eLife 2017; 6: e30506
• 8 Bitler BG, Fatkhutdinov N, Zhang R. Potential therapeutic targets in ARID1A-mutated cancers. Expert Opin Ther Targets 2015; 19 (11) 1419-1422
• 9 Takenouchi T, Yoshihashi H, Sakaguchi Y. et al. Hirschsprung disease as a yet undescribed phenotype in a patient with ARID1B mutation. Am J Med Genet A 2016; 170 (12) 3249-3252
• 10 Das K, Mohanty S. Hirschsprung disease - current diagnosis and management. Indian J Pediatr 2017; 84 (08) 618-623
• 11 Wang XJ, Camilleri M. Hirschsprung disease: insights on genes, penetrance, and prenatal diagnosis. Neurogastroenterol Motil 2019; 31 (11) e13732