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Cerebro-facio-thoracic dysplasia (Pascual-Castroviejo syndrome): Identification of a novel mutation, use of facial recognition analysis, and review of the literature.


ABSTRACT: BACKGROUND:Cerebro-facio-thoracic dysplasia (CFTD) is a rare, autosomal recessive disorder characterized by facial dysmorphism, cognitive impairment and distinct skeletal anomalies and has been linked to the TMCO1 defect syndrome. OBJECTIVE:To describe two siblings with features consistent with CFTD with a novel homozygous p.Arg114* pathogenic variant in the TMCO1 gene. METHODS:We conducted a literature review and summarized the clinical features and laboratory results of two siblings with a novel pathogenic variant in the TMCO1 gene. Facial recognition analysis was utilized to assess the specificity of facial traits. CONCLUSION:The novel homozygous p.Arg114* pathogenic variant in the TMCO1 gene is responsible for the clinical features of CFTD in two siblings. Facial recognition analysis allows unambiguous distinction of this syndrome against controls.

SUBMITTER: Tender JAF 

PROVIDER: S-EPMC5904567 | biostudies-literature | 2018 Apr

REPOSITORIES: biostudies-literature

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Cerebro-facio-thoracic dysplasia (Pascual-Castroviejo syndrome): Identification of a novel mutation, use of facial recognition analysis, and review of the literature.

Tender Jennifer A F JAF   Ferreira Carlos R CR  

Translational science of rare diseases 20180413 1


<h4>Background</h4>Cerebro-facio-thoracic dysplasia (CFTD) is a rare, autosomal recessive disorder characterized by facial dysmorphism, cognitive impairment and distinct skeletal anomalies and has been linked to the TMCO1 defect syndrome.<h4>Objective</h4>To describe two siblings with features consistent with CFTD with a novel homozygous p.Arg114* pathogenic variant in the <i>TMCO1</i> gene.<h4>Methods</h4>We conducted a literature review and summarized the clinical features and laboratory resul  ...[more]

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