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17q12 Recurrent Deletion Syndrome in Childhood.

Giorgia Ceravolo1,2, Salvatore Mollica1, Marco Cavallaro3

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The 17q12 deletion syndrome, affecting the HNF1B gene, causes varied symptoms like kidney issues and developmental problems. Early genetic testing and ongoing care are crucial for managing this condition with high variability.

Keywords:
17q12 recurrent deletionHNF1BMODY5chromosomal microarraycongenital anomalies of the kidney and urinary tract (CAKUT)intrafamilial variabilityneurodevelopmental disorderspaediatric nephrology

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Area of Science:

  • Genomic Medicine
  • Human Genetics
  • Pediatric Nephrology

Background:

  • 17q12 deletion syndrome is a genomic disorder involving a 1.4-1.5 Mb region including the HNF1B gene.
  • It presents with significant phenotypic variability, including renal, endocrine, metabolic, neurodevelopmental, and psychiatric disorders.
  • The penetrance and severity of symptoms vary widely among affected individuals.

Purpose of the Study:

  • To review the molecular basis, clinical presentation, diagnostics, and management of 17q12 deletion syndrome.
  • To illustrate the condition's variability using contrasting pediatric cases.
  • To highlight the challenges in clinical prognostication for 17q12 deletion syndrome.

Main Methods:

  • Comprehensive literature review on 17q12 deletion syndrome.
  • Case study analysis of three siblings with familial 17q12 deletion.
  • Comparative analysis of clinical presentations within a single family.

Main Results:

  • Familial 17q12 deletion exhibited striking intrafamilial variability in affected siblings.
  • Clinical manifestations ranged from isolated renal and neurodevelopmental features to multisystemic involvement.
  • The cases demonstrated both extremes of the syndrome's phenotypic spectrum.

Conclusions:

  • Emphasizes the importance of early genetic testing for pediatric renal anomalies.
  • Stresses the need for multidisciplinary surveillance, even in asymptomatic individuals.
  • Highlights 17q12 deletion syndrome as a key model for studying variable expressivity in genomic medicine.