Testicular sex cord-stromal tumor in a boy with 2q37 deletion syndrome

Yasunari Sakai, Ryota Sozaki, Hidetaka Yamamoto, Yuki Matsushita, Hazumu Nagata, Yoshito Ishizaki, Hiroyuki Torisu, Yoshinao Oda, Tomoaki Taguchi, Chad A. Shaw, Toshiro Hara

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Abstract

Background: 2q37 deletion syndrome is a rare congenital disorder that is characterized by facial dysmorphism, obesity, vascular and skeletal malformations, and a variable degree of intellectual disability. To date, common but variable phenotypes, such as skeletal or digit malformations and obesity, have been associated with the deleted size or affected genes at chromosome 2q37. However, it remains elusive whether 2q37 deletion per se or other genetic factors, such as copy number variations (CNVs), may confer the risk for the tumorigenic condition. Case presentation. We report a two-year-old Japanese boy with 2q37 deletion syndrome who exhibited the typical facial appearance, coarctation of the aorta, and a global developmental delay, while lacking the symptoms of brachydactyly and obesity. He developed a sex cord-stromal tumor of the right testis at three months of age. The array comparative genome hybridization analysis identified an 8.2-Mb deletion at 2q37.1 (chr2:234,275,216-242,674,807) and it further revealed two additional CNVs: duplications at 1p36.33-p36.32 (chr1:834,101-2,567,832) and 20p12.3 (chr20:5,425,762-5,593,096). The quantitative PCRs confirmed the heterozygous deletion of HDAC4 at 2q37.3 and duplications of DVL1 at 1q36 and GPCPD1 at 20p12.3. Conclusion: This study describes the unique phenotypes in a boy with 2q37 deletion and additional CNVs at 1p36.33-p36.32 and 20p12.3. The data provide evidence that the phenotypic variations and unusual complications of 2q37 deletion syndrome are not simply explained by the deleted size or genes located at 2q37, but that external CNVs may account at least in part for their variant phenotypes. Accumulating the CNV data for chromosomal disorders will be beneficial for understanding the genetic effects of concurrent CNVs on the syndromic phenotypes and rare complications.

Original languageEnglish
Article number19
JournalBMC Medical Genomics
Volume7
Issue number1
DOIs
Publication statusPublished - Apr 22 2014

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Sex Cord-Gonadal Stromal Tumors
Testicular Neoplasms
Phenotype
Obesity
Brachydactyly
Chromosome Disorders
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Vascular Malformations
Aortic Coarctation
Comparative Genomic Hybridization
Intellectual Disability
Genes
Testis
Chromosomes
Chromosome 2q37 deletion syndrome
Polymerase Chain Reaction

All Science Journal Classification (ASJC) codes

  • Genetics
  • Genetics(clinical)

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Testicular sex cord-stromal tumor in a boy with 2q37 deletion syndrome. / Sakai, Yasunari; Sozaki, Ryota; Yamamoto, Hidetaka; Matsushita, Yuki; Nagata, Hazumu; Ishizaki, Yoshito; Torisu, Hiroyuki; Oda, Yoshinao; Taguchi, Tomoaki; Shaw, Chad A.; Hara, Toshiro.

In: BMC Medical Genomics, Vol. 7, No. 1, 19, 22.04.2014.

Research output: Contribution to journalArticle

Sakai, Yasunari ; Sozaki, Ryota ; Yamamoto, Hidetaka ; Matsushita, Yuki ; Nagata, Hazumu ; Ishizaki, Yoshito ; Torisu, Hiroyuki ; Oda, Yoshinao ; Taguchi, Tomoaki ; Shaw, Chad A. ; Hara, Toshiro. / Testicular sex cord-stromal tumor in a boy with 2q37 deletion syndrome. In: BMC Medical Genomics. 2014 ; Vol. 7, No. 1.
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AU - Matsushita, Yuki

AU - Nagata, Hazumu

AU - Ishizaki, Yoshito

AU - Torisu, Hiroyuki

AU - Oda, Yoshinao

AU - Taguchi, Tomoaki

AU - Shaw, Chad A.

AU - Hara, Toshiro

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