Molecular characterization of an interstitial deletion of 1p31.3 in a patient with obesity and psychiatric illness and a review of the literature

Marilena Petti, Joy Samanich, Qiulu Pan, Chih Kang Huang, Jana Reinmund, Sadaf Farooqi, Bernice E. Morrow, Melanie Babcock

Research output: Contribution to journalArticle

7 Citations (Scopus)

Abstract

We report on the clinical and array-based characterization of an interstitial 1p31.3 deletion in a 15-year-old male patient with obesity, behavioral problems including multiple psychiatric diagnoses, mild intellectual impairment, facial dysmorphism, and a strong family history of psychiatric illness. The deletion breakpoints were determined by molecular karyotyping, revealing a 3.2Mb excision. Patients previously reported with hemizygous deletions including this cytogenetic band had intellectual impairment and some facial features that overlap with our patient's phenotype. However, their deletions were larger, encompassing several cytogenetic bands, making this case the smallest deletion to date that we are aware of sharing these phenotypic characteristics. There are 17 genes that map to the interval. Two genes within the interval, LEPR and PDE4B, are interesting candidates for these phenotypes because of their potential role in obesity and psychiatric illness, respectively. Identification of the smaller deletion underscores the importance of combining clinical investigation and array comparative genomic hybridization analysis for appropriate diagnosis, genetic counseling and potentially for prenatal diagnosis.

Original languageEnglish (US)
Pages (from-to)825-832
Number of pages8
JournalAmerican Journal of Medical Genetics, Part A
Volume155
Issue number4
DOIs
StatePublished - Apr 2011

Fingerprint

Psychiatry
Obesity
Cytogenetics
Phenotype
Karyotyping
Comparative Genomic Hybridization
Genetic Counseling
Prenatal Diagnosis
Mental Disorders
Genes
Problem Behavior

Keywords

  • 1p31.3
  • ACGH
  • Deletions
  • LEPR
  • Obesity
  • PDE4B

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

Cite this

Molecular characterization of an interstitial deletion of 1p31.3 in a patient with obesity and psychiatric illness and a review of the literature. / Petti, Marilena; Samanich, Joy; Pan, Qiulu; Huang, Chih Kang; Reinmund, Jana; Farooqi, Sadaf; Morrow, Bernice E.; Babcock, Melanie.

In: American Journal of Medical Genetics, Part A, Vol. 155, No. 4, 04.2011, p. 825-832.

Research output: Contribution to journalArticle

Petti, Marilena ; Samanich, Joy ; Pan, Qiulu ; Huang, Chih Kang ; Reinmund, Jana ; Farooqi, Sadaf ; Morrow, Bernice E. ; Babcock, Melanie. / Molecular characterization of an interstitial deletion of 1p31.3 in a patient with obesity and psychiatric illness and a review of the literature. In: American Journal of Medical Genetics, Part A. 2011 ; Vol. 155, No. 4. pp. 825-832.
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