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American journal of medical genetics. Part A
09, 2020;182 (9): 2077-2084.

Short stature and growth hormone deficiency in a subset of patients with Potocki-Lupski syndrome: Expanding the phenotype of PTLS.

Rachel Franciskovich, Claudia Soler-Alfonso, Juanita Neira-Fresneda, James R Lupski, Bonnie McCann-Crosby, Lorraine Potocki
Author Information
  1. Rachel Franciskovich: Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA. ORCID
  2. Claudia Soler-Alfonso: Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
  3. Juanita Neira-Fresneda: Department of Human Genetics, Emory University, School of Medicine, Atlanta, Georgia, USA.
  4. James R Lupski: Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
  5. Bonnie McCann-Crosby: Texas Children's Hospital, Houston, Texas, USA.
  6. Lorraine Potocki: Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
PMID: 32656927 DOI: 10.1002/ajmg.a.61741

Abstract

Potocki-Lupski Syndrome (PTLS, MIM 610883), or duplication of chromosome 17p11.2, is a clinically recognizable condition characterized by infantile hypotonia, failure to thrive, developmental delay, intellectual disability, and congenital anomalies. short stature, classified as greater than two standard deviations below the mean, has not previously been considered a major feature of PTLS. Retrospective chart review on a cohort of 37 individuals with PTLS was performed to investigate the etiology of short stature. Relevant data included anthropometric measurements, insulin growth factor-1 (IGF-1), insulin-like growth factor binding protein 3 (IGFBP-3), growth hormone (GH) stimulation testing, blood glucose levels, brain MRI, and bone age. Approximately 25% (9/37) of individuals with PTLS had short stature. growth hormone deficiency (GHD) was definitively identified in two individuals. These two PTLS patients with growth hormone deficiency, as well as three others with short stature and no documented GHD, received growth hormone and obtained improvement in linear growth. One individual was identified to have pituitary abnormalities on MRI and had complications of hypoglycemia due to unrecognized GHD. Individuals with PTLS can benefit from undergoing evaluation for GHD should they present with short stature or hypoglycemia. Early identification of GHD could facilitate potential therapeutic benefit for individuals with PTLS, including linear growth, musculoskeletal, and in cases of hypoglycemia, potentially cognitive development as well.

Keywords

Potocki-Lupski syndrome growth hormone hypoglycemia short stature

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Grants

  1. UM1HG006542/NHGRI NIH HHS
  2. U54 HD083092/NICHD NIH HHS
  3. UM1 HG006542/NHGRI NIH HHS
  4. R35 NS105078/NINDS NIH HHS
  5. P50 HD103555/NICHD NIH HHS

MeSH Term

Abnormalities, Multiple
Adolescent
Adult
Blood Glucose
Brain
Child
Child, Preschool
Chromosome Disorders
Chromosome Duplication
Comparative Genomic Hybridization
Dwarfism, Pituitary
Failure to Thrive
Female
Human Growth Hormone
Humans
Infant
Insulin-Like Growth Factor Binding Protein 3
Insulin-Like Growth Factor I
Magnetic Resonance Imaging
Male
Phenotype
Smith-Magenis Syndrome
Young Adult

Chemicals

Blood Glucose
IGFBP3 protein, human
Insulin-Like Growth Factor Binding Protein 3
Human Growth Hormone
Insulin-Like Growth Factor I
Journal Article Research Support, N.I.H., Extramural
Article has an altmetric score of 1

Word Cloud

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