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Crk Haploinsufficiency Is Associated with Intrauterine Growth Retardation and Severe Postnatal Growth Failure

Annalisa Deodati1, Elena Inzaghi1, Daniela Germani2

  • 1Dipartimento Pediatrico Universitario Ospedaliero, IRCCS "Bambino Gesù" Children's Hospital, Rome, Italy.

Hormone Research in Paediatrics
|January 27, 2022
PubMed

Insights

Children with 17p13.3 microdeletions experience growth failure due to impaired growth hormone (GH) and IGF1 signaling. Recombinant human GH (rhGH) therapy shows promise in improving height deficits.

Area of Science:

  • Genetics
  • Endocrinology
  • Developmental Biology

Background:

  • 17p13.3 microdeletions, including the YWHAE gene, are linked to intrauterine growth restriction, craniofacial dysmorphisms, postnatal growth failure, and cognitive impairment.
  • This genomic region's instability is associated with conditions like isolated lissencephaly sequence and Miller-Dieker syndrome.
  • While brain abnormalities are linked to YWHAE deficiency, the cause of growth failure remains unclear.

Observation:

  • Two pediatric patients with de novo 17p13.3 deletions presented with intrauterine growth retardation.
  • In vitro studies revealed defects in CRK expression and growth hormone/insulin-like growth factor 1 (GH/IGF1) signaling pathways.
  • Recombinant human GH (rhGH) therapy partially improved height in one patient and induced catch-up growth in the other.

Findings:

  • 17p13.3 microdeletions involving CRK disrupt both GH and IGF1 signaling.
  • This disruption leads to pre- and postnatal growth retardation due to partial insensitivity to GH/IGF1.
  • CRK plays a crucial role in the GH/IGF1 axis.

Implications:

  • rhGH therapy is a potential treatment to mitigate height deficits in patients with 17p13.3 microdeletions.
  • Further research is needed to evaluate the long-term effects of rhGH therapy on adult height in these patients.
  • Understanding the CRK-mediated signaling pathway is vital for managing growth disorders associated with 17p13.3 microdeletions.
Abstract

Keywords:
CRKGH-IGF1 axisGrowth hormone therapySGA

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