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Retinal dystrophy in an individual carrying a de novo missense variant of SMARCA4
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Retinal dystrophy in an individual carrying a de novo missense variant of SMARCA4
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Retinal dystrophy in an individual carrying a de novo missense variant of SMARCA4
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Journal Article
Retinal dystrophy in an individual carrying a de novo missense variant of SMARCA4
2019
Overview
Background Coffin–Siris syndrome (CSS) is characterized by intellectual disability, dysmorphic facial features, growth deficiency, microcephaly, and abnormalities of the fifth fingers/toes. CSS is caused by mutations in several genes of the BRG1‐associated factor pathway including SMARCA4. Methods Whole‐exome sequencing was performed on a 14‐year‐old female individual who presented with mild intellectual disability and dysmorphic features, tooth abnormalities, and short stature. She had brachydactyly but no aplasia or hypoplasia of the distal phalanx or nail of the fifth digit. She was also found to have retinal dystrophy that has not been previously reported in CSS. Results The individual presented herein was found to harbor a previously unreported de novo variant in SMARCA4. Conclusion This case expands the phenotypic spectrum of CSS manifestations. We report an individual harboring a previously unreported de novo variant in SMARCA4, who presented with mild dysmorphic features and retinopathy, which expand the phenotypic spectrum of Coffin‐Siris syndrome manifestations.
Publisher
John Wiley & Sons, Inc,John Wiley and Sons Inc,Wiley
Subject
/ Abnormalities, Multiple - genetics
/ Abnormalities, Multiple - pathology
/ Age
/ Aplasia
/ Defects
/ Female
/ Finger
/ Hand Deformities, Congenital - genetics
/ Hand Deformities, Congenital - pathology
/ Humans
/ Intellectual Disability - genetics
/ Intellectual Disability - pathology
/ Mutation
/ Optics
/ Original
/ Retina
/ SMARCA4
