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Interstitial deletion 14q22.3-q23.2: genotype-phenotype correlation.

María Luisa Martínez-Frías1, Javier Gonzalo Ocejo-Vinyals, Rosa Arteaga

  • 1Departamento de Farmacología, Facultad de Medicina, Universidad Complutense de Madrid, Madrid, Spain; Spanish Collaborative Study of Congenital Malformations (ECEMC), CIAC (Research Center on Congenital Anomalies), Instituto de Salud Carlos III, Madrid, Spain; CIBER de Enfermedades Raras (CIBERER) (U724), Instituto de Salud Carlos III, Ministerio de Economía y Competitividad, Madrid, Spain.

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Summary

This study identifies a 6.5 Mb interstitial deletion 14q22.3-q23.2 in a 12-year-old girl, revealing the involvement of SIX genes in her developmental anomalies.

Keywords:
14q22.3-q23.2 deletiongenotype-phenotype correlationmicrodeletion

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Area of Science:

  • Genetics
  • Developmental Biology
  • Human Molecular Genetics

Background:

  • The increasing use of molecular tools has led to a rise in detecting genomic imbalances, including interstitial deletions.
  • Interstitial deletions in the 14q21-q23 region have been previously associated with ocular, pituitary, and limb anomalies.

Observation:

  • A 12-year-old girl presented with a dysmorphic face, choanal atresia, gastroesophageal reflux, and moderate developmental delay.
  • Array comparative genome hybridization detected a 6.5 Mb interstitial deletion at 14q22.3-q23.2.

Findings:

  • The deletion encompasses 27 genes, notably SIX1, SIX4, and SIX6, known for roles in ocular, hypothalamic, pituitary, and facial development.
  • Analysis of mouse embryo data correlated SIX gene expression patterns with the patient's observed phenotype.

Implications:

  • This finding highlights the critical role of the SIX gene family in human development and the phenotypic consequences of 14q deletions.
  • Further investigation into imprinted regions on chromosome 14q may elucidate the clinical variability observed in these deletions.