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A dominant mesomelic dysplasia associated with a 1.0-Mb microduplication of HOXD gene cluster at 2q31.1
  1. Tae-Joon Cho1,
  2. Ok-Hwa Kim2,
  3. In Ho Choi1,
  4. Gen Nishimura3,
  5. Andrea Superti-Furga4,
  6. Kang Suhp Kim5,
  7. Young-Ju Lee5,
  8. Woong-Yang Park5
  1. 1Department of Orthopaedic Surgery, Seoul National University College of Medicine, Seoul, Republic of Korea
  2. 2Department of Radiology, Ajou University Hospital, Suwon, Republic of Korea
  3. 3Department of Radiology, Tokyo Metropolitan Kiyose Children's Hospital, Tokyo, Japan
  4. 4Centre for Pediatrics and Adolescent Medicine, University of Freiburg, Freiburg, Germany
  5. 5Department of Biochemistry and Molecular Biology, Seoul National University College of Medicine, Seoul, Republic of Korea
  1. Correspondence to Woong-Yang Park, Department of Biochemistry and Molecular Biology, Seoul National University College of Medicine, 103 Daehakno, Jongno-gu, Seoul 110-799, Korea; wypark{at}snu.ac.kr

Abstract

A three-generation family with four patients affected by a novel mesomelic dysplasia was investigated for genome-wide DNA copy number variation profiles. This revealed a microduplication of a 1.0-Mb chromosomal segment at 2q31.1 spanning nine Homeo box D (HOXD) genes that co-segregated with the phenotype. Quantitative PCR analysis of a gene within this duplicated region showed consistent results. Mesomelic dysplasia Kantaputra type (MDK; MIM 156232),which shares some phenotypes with this family, has also been mapped to a chromosomal region comprising 2q31.1, raising the possibility that MDK and the condition observed in this family may be allelic.

  • Diagnosis
  • calcium and bone
  • clinical genetics
  • molecular genetics

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Footnotes

  • Funding This study was supported by a grant of the Korea Healthcare Technology R&D Project, Ministry for Health, Welfare and Family Affairs, Republic of Korea (No A080588).

  • Competing interests None.

  • Patient consent Obtained.

  • Provenance and peer review Not commissioned; externally peer reviewed.

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