Journal article
Coffin–Siris Syndrome in a Patient with Hirschsprung's Disease—Expanding the Phenotype by Mutation ARID1B: A Case Report and Literature Review
Journal of pediatric neurology, Vol.21(5), pp.384-387
10/01/2023
DOI: 10.1055/s-0042-1756453
Abstract
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.
Details
- Title: Subtitle
- Coffin–Siris Syndrome in a Patient with Hirschsprung's Disease—Expanding the Phenotype by Mutation ARID1B: A Case Report and Literature Review
- Creators
- Leonardo F. Freitas - Universidade Federal de São PauloLays S. Ribeiro - Universidade Federal de São PauloMárcio L. Duarte - Universidade Federal de São PauloMayara O. da Silva - MegaPaula M. Ferreira - Department of Pediatric Neurology, Clínica FORT, Varginha-MG, Brazil
- Resource Type
- Journal article
- Publication Details
- Journal of pediatric neurology, Vol.21(5), pp.384-387
- DOI
- 10.1055/s-0042-1756453
- ISSN
- 1304-2580
- eISSN
- 1875-9041
- Language
- English
- Date published
- 10/01/2023
- Academic Unit
- Radiology
- Record Identifier
- 9984697717802771
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