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Phenotypic Variation between Monochorionic Diamniotic Twins with Coffin-Siris Syndrome.

ABSTRACT: The first known documented case of monochorionic-diamniotic twins with Coffin-Siris syndrome is described in this study. This case is notable because of the phenotypic differences between infants despite having identical genomes and causative variants. Also unique to this case is the clinical influence of early diagnosis using precision medicine techniques.

SUBMITTER: LaBrecque B

PROVIDER: S-EPMC6824890 | biostudies-literature | 2019 Dec

REPOSITORIES: biostudies-literature

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Phenotypic Variation between Monochorionic Diamniotic Twins with Coffin-Siris Syndrome.

LaBrecque Brett B Contreras Marioxy M Giordano Jessica J Parravicini Elvira E

Journal of pediatric genetics 20190420 4

The first known documented case of monochorionic-diamniotic twins with Coffin-Siris syndrome is described in this study. This case is notable because of the phenotypic differences between infants despite having identical genomes and causative variants. Also unique to this case is the clinical influence of early diagnosis using precision medicine techniques. ...[more]

PMID: 31687260

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Coffin-Siris syndrome: phenotypic evolution of a novel SMARCA4 mutation.

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Prenatal Coffin-Siris Syndrome: Expanding the Phenotypic and Genotypic Spectrum of the Disease.

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Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort.

Project description: Not available

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Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort.

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Genotype-Phenotype Correlations in 208 Individuals with Coffin-Siris Syndrome.

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Successful difficult airway management of a child with Coffin-siris syndrome.

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A de novo variant of BICRA results in Coffin-Siris syndrome 12.

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ANKRD11 variants cause variable clinical features associated with KBG syndrome and Coffin-Siris-like syndrome.

Project description:KBG syndrome (KBGS) is an autosomal dominant multiple congenital anomaly-intellectual disability syndrome, characterized by developmental delay with neurological involvements, macrodontia of the upper central incisors, characteristic facial dysmorphism and skeletal anomalies. Variants in ANKRD11 cause KBGS. We present five individuals from four families with ANKRD11 variants identified by whole-exome sequencing. Four of the five were clinically affected, and their diagnoses were varied. One was typical KBGS, two were Coffin-Siris syndrome-like (CSS), and one was intellectual disability with infantile spasms. One individual showed extremely mild phenotype. All individuals fulfilled the proposed diagnostic criteria for KBGS. Phenotypic features overlap between KBGS and CSS to some extent, and characteristic dental and fifth finger/toe findings can indicate differential diagnosis. These findings indicate that patients with ANKRD11 variants occupy a wide spectrum of intellectual disability, including clinically normal individuals. This is the first report highlighting the clinical overlap between KBGS and CSS and supporting the recently proposed clinical concept, in which transcriptional machineries are disrupted.

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