Coffin-Siris syndrome with bilateral macular dysplasia caused by a novel exonic deletion in ARID1B.
Congenit Anom (Kyoto)
; 60(6): 189-193, 2020 Nov.
Article
in En
| MEDLINE
| ID: mdl-32618029
ABSTRACT
Coffin-Siris syndrome (CSS) is a congenital anomaly syndrome characterized by developmental delay, coarse facial features, and hypoplasia of the fifth digit's nail or phalanges. Herein, we report a case of the 8-year-old female patient who showed developmental delay associated with dysplasia in the macular and large toe area. Comprehensive genomic analysis showed no possible candidate variants, but the subsequent genomic copy number analysis revealed a novel exonic deletion in the coding region of AT-rich interactive domain-containing protein 1B (ARID1B), a gene responsible for CSS. Genomic copy number analysis can aid in diagnosing CSS by confirming undiagnosed exonic deletions in ARID1B. Furthermore, this is the first report of CSS associated with bilateral macular dysplasia.
Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Phenotype
/
Transcription Factors
/
Abnormalities, Multiple
/
Hand Deformities, Congenital
/
Exons
/
Sequence Deletion
/
DNA-Binding Proteins
/
Face
/
Macula Lutea
/
Intellectual Disability
Type of study:
Prognostic_studies
Limits:
Child
/
Female
/
Humans
Language:
En
Journal:
Congenit Anom (Kyoto)
Journal subject:
TERATOLOGIA
Year:
2020
Document type:
Article
Affiliation country:
Japón