Coffin-Siris Syndrome: Case Series of Three Patients and a Novel ARID2 Variant.
Ann Clin Lab Sci
; 53(6): 959-963, 2023 Nov.
Article
in En
| MEDLINE
| ID: mdl-38182156
ABSTRACT
Coffin-Siris syndrome (CSS) is a rare congenital disorder characterized by coarse facial features, intellectual disability or developmental delay, and aplasia or hypoplasia of the tips of the fifth finger and/or toes. Mutations in genes affecting the switch/sucrose non-fermenting ATP-dependent chromatin remodeling complex are reported to cause CSS. Here, we describe three CSS patients. Two girls aged 3 and 2 years old presented with global developmental delay, poor growth, and a dysmorphic face. Whole-exome sequencing (WES) was performed and they were diagnosed with CSS due to heterozygous frameshift variants (c.3443_3444del, p.Lys1148ArgfsTer9 and c.2869_2890del, p.Pro957CysfsTer20) in ARID1B A 2-year-old girl presented with gross motor delay and dysmorphic face. She was diagnosed with CSS due to a novel heterozygous frameshift variant (c.4942_4943del p.Gln1648GlyfsTer8) in ARID2.
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Collection:
01-internacional
Database:
MEDLINE
Main subject:
Abnormalities, Multiple
Limits:
Child, preschool
/
Female
/
Humans
Language:
En
Journal:
Ann Clin Lab Sci
/
Ann. clin. lab. sci
/
Annals of clinical laboratory science
Year:
2023
Document type:
Article
Country of publication:
United States