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A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
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A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

Published on: December 1, 2017

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Interstitial deletion of 7q22.1q31.1 in a boy with structural brain abnormality, cardiac defect, developmental delay,

Olivia L Katz, Ian D Krantz, Sarah E Noon

    American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
    |April 21, 2016
    PubMed

    Insights

    A male child experienced feeding issues, hypotonia, and developmental delays due to a 7q22.1q31.1 deletion. This genetic finding highlights the impact of interstitial deletions on neurodevelopment and congenital anomalies.

    Area of Science:

    • Genetics
    • Pediatrics
    • Developmental Biology

    Background:

    • Genetic deletions on chromosome 7 can lead to complex developmental disorders.
    • Understanding the phenotypic spectrum of 7q deletions is crucial for diagnosis and management.

    Observation:

    • A male infant presented with feeding difficulties, hypotonia, sensorineural hearing loss, cerebral cortical agenesis, cardiac defects, dysmorphic features, and developmental delays.
    • CytoScan HD array analysis revealed a 12.1 Mb interstitial deletion in the 7q22.1q31.1 region.

    Findings:

    • The identified deletion encompasses a critical region associated with neurodevelopmental and congenital anomalies.
    • A literature review of overlapping 7q deletions was conducted to correlate genotype with phenotype.
    • Candidate genes within the deleted segment were analyzed for their potential role in the observed clinical features.

    Implications:

    • This case expands the known phenotypic variability associated with intermediate 7q deletions.
    • Identification of candidate genes may provide insights into the molecular mechanisms underlying the observed abnormalities.
    • Accurate genetic diagnosis is essential for genetic counseling and clinical management of affected individuals.

    Keywords:
    7q22.1q31.1cardiac defectdevelopmental delaydysmorphic featuresintermediate 7q deletioninterstitial 7q deletionstructural brain abnormality

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