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ANKS1B is a potential candidate gene for short stature and failure to thrive in children

Pankaj Prasun1, Rebecca C Pulvermacher1

  • 1Department of Pediatrics, Division of Genetics, American Family Children's Hospital Madison, Madison, USA.

Journal of Pediatric Endocrinology & Metabolism : JPEM
|August 26, 2025
PubMed

Insights

Genetic deletions in the ANKS1B gene may cause short stature and failure to thrive in children. This finding expands the known genetic causes of pediatric growth issues.

Area of Science:

  • Genetics
  • Pediatrics
  • Endocrinology

Background:

  • Short stature and failure to thrive are common pediatric referral reasons with diverse etiologies.
  • Genetic syndromes represent approximately 5% of childhood short stature cases.
  • Genomic technologies are increasing the identification of genes linked to growth disorders.

Discussion:

  • A novel ANKS1B intragenic deletion was identified in a child with short stature and failure to thrive.
  • ANKS1B is known for neurodevelopmental roles, but evidence suggests involvement in somatic growth.
  • This case highlights ANKS1B as a potential candidate gene for unexplained pediatric growth failure.

Key Insights:

  • Discovery of ANKS1B intragenic deletion as a cause of short stature and failure to thrive.
  • Linking ANKS1B to somatic growth, expanding its known clinical relevance.
  • Identification of subtle physical features associated with ANKS1B deletion.

Outlook:

  • Further investigation into ANKS1B's role in pediatric growth is warranted.
  • Clinical genetic testing may benefit from including ANKS1B in panels for short stature.
  • Understanding ANKS1B's function could lead to targeted growth therapies.
Abstract

No abstract available in PubMed .

Keywords:
ANKS1BSilver–Russell syndromefailure to thrivegenetic short stature

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