A boy with Coffin-Siris syndrome with a novel frameshift mutation in ARID1B.
Neuro Endocrinol Lett
; 41(6): 285-289, 2021 Jan.
Article
in En
| MEDLINE
| ID: mdl-33714239
ABSTRACT
Coffin-Siris syndrome (OMIM #135900) is an autosomal dominant inherited disorder, characterized by dysmorphic features, congenital anomalies, and developmental delay. We report the clinical and molecular findings in a patient with Coffin-Siris syndrome. A 3-year-and-6-month-old boy presented with developmental delay, distinctive facial features, hypertrichosis, partial agenesis of the corpus callosum, fifth digit nail hypoplasia, congenital anomalies, and growth retardation. Targeted gene panel sequencing identified a novel heterozygous frameshift mutation c.2147_2148insAC in ARID1B which was predicted as a premature stop codon p. (Gln717Argfs*29). This is the second report of Coffin-Siris syndrome in Korea. Targeted gene panel sequencing can be used as an effective tool for the diagnosis of rare complex syndromes such as Coffin-Siris syndrome.
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Collection:
01-internacional
Database:
MEDLINE
Main subject:
Hand Deformities, Congenital
/
Intellectual Disability
/
Micrognathism
Type of study:
Prognostic_studies
Limits:
Humans
/
Infant
/
Male
Language:
En
Journal:
Neuro Endocrinol Lett
Year:
2021
Document type:
Article