16p13.3 duplication associated with non-syndromic pierre robin sequence with incomplete penetrance

Mingran Sun, Han Zhang, Guiying Li, Xianfu Wang, Xianglan Lu, Andrea Sternenberger, Carrie Guy, Wenfu Li, Ji-Yun Lee, Lei Zheng, Shibo Li

Research output: Contribution to journalArticle

4 Citations (Scopus)

Abstract

Background: Pierre Robin sequence (PRS) is a condition present at birth. It is characterized by micrognathia, cleft palate, upper airway obstruction, and feeding problems. Multiple etiologies including genetic defects have been documented in patients with syndromic, non-syndromic, and isolated PRS. Case presentation: We report a 4-year-old boy with a complex small supernumerary marker chromosome (sSMC) who had non-syndromic Pierre Robin sequence (PRS). The complex marker chromosome, der(14)t(14;16)(q11.2;p13.13), was initially identified by routine chromosomal analysis and subsequently characterized by array-comparative genomic hybridization (array CGH) and confirmed by fluorescence in situ hybridization (FISH). Clinical manifestations included micrognathia, U-Type cleft palate, bilateral congenital ptosis, upslanted and small eyes, bilateral inguinal hernias, umbilical hernia, bilateral clubfoot, and short fingers and toes. To our best knowledge, this was the first case diagnosed with non-syndromic PRS associated with a complex sSMC, which involved a 3.8 Mb gain in the 14q11.2 region and an 11.8 Mb gain in the 16p13.13-pter region. Conclusions: We suggest that the duplicated chromosome segment 16p13.3 possibly may be responsible for the phenotypes of our case and also may be a candidate locus of non-syndromic PRS. The duplicated CREBBP gene within chromosome 16p13.3 is associated with incomplete penetrance regarding the mandible development anomalies. Further studies of similar cases are needed to support our findings.

Original languageEnglish
Article number76
JournalMolecular Cytogenetics
Volume7
Issue number1
DOIs
Publication statusPublished - 2014 Jan 1

Fingerprint

Pierre Robin Syndrome
Penetrance
Chromosomes
Micrognathism
Cleft Palate
Genetic Markers
Clubfoot
Chromosomes, Human, Pair 14
Umbilical Hernia
Comparative Genomic Hybridization
Inguinal Hernia
Toes
Airway Obstruction
Fluorescence In Situ Hybridization
Mandible
Fingers
Genes
Fluorescence
Parturition
Phenotype

Keywords

  • 16p13.3
  • Array CGH
  • Fish
  • Pierre robin sequence
  • Small supernumerary marker chromosome

ASJC Scopus subject areas

  • Biochemistry
  • Molecular Medicine
  • Molecular Biology
  • Genetics
  • Genetics(clinical)
  • Biochemistry, medical

Cite this

16p13.3 duplication associated with non-syndromic pierre robin sequence with incomplete penetrance. / Sun, Mingran; Zhang, Han; Li, Guiying; Wang, Xianfu; Lu, Xianglan; Sternenberger, Andrea; Guy, Carrie; Li, Wenfu; Lee, Ji-Yun; Zheng, Lei; Li, Shibo.

In: Molecular Cytogenetics, Vol. 7, No. 1, 76, 01.01.2014.

Research output: Contribution to journalArticle

Sun, M, Zhang, H, Li, G, Wang, X, Lu, X, Sternenberger, A, Guy, C, Li, W, Lee, J-Y, Zheng, L & Li, S 2014, '16p13.3 duplication associated with non-syndromic pierre robin sequence with incomplete penetrance', Molecular Cytogenetics, vol. 7, no. 1, 76. https://doi.org/10.1186/s13039-014-0076-5
Sun, Mingran ; Zhang, Han ; Li, Guiying ; Wang, Xianfu ; Lu, Xianglan ; Sternenberger, Andrea ; Guy, Carrie ; Li, Wenfu ; Lee, Ji-Yun ; Zheng, Lei ; Li, Shibo. / 16p13.3 duplication associated with non-syndromic pierre robin sequence with incomplete penetrance. In: Molecular Cytogenetics. 2014 ; Vol. 7, No. 1.
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AU - Li, Guiying

AU - Wang, Xianfu

AU - Lu, Xianglan

AU - Sternenberger, Andrea

AU - Guy, Carrie

AU - Li, Wenfu

AU - Lee, Ji-Yun

AU - Zheng, Lei

AU - Li, Shibo

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AB - Background: Pierre Robin sequence (PRS) is a condition present at birth. It is characterized by micrognathia, cleft palate, upper airway obstruction, and feeding problems. Multiple etiologies including genetic defects have been documented in patients with syndromic, non-syndromic, and isolated PRS. Case presentation: We report a 4-year-old boy with a complex small supernumerary marker chromosome (sSMC) who had non-syndromic Pierre Robin sequence (PRS). The complex marker chromosome, der(14)t(14;16)(q11.2;p13.13), was initially identified by routine chromosomal analysis and subsequently characterized by array-comparative genomic hybridization (array CGH) and confirmed by fluorescence in situ hybridization (FISH). Clinical manifestations included micrognathia, U-Type cleft palate, bilateral congenital ptosis, upslanted and small eyes, bilateral inguinal hernias, umbilical hernia, bilateral clubfoot, and short fingers and toes. To our best knowledge, this was the first case diagnosed with non-syndromic PRS associated with a complex sSMC, which involved a 3.8 Mb gain in the 14q11.2 region and an 11.8 Mb gain in the 16p13.13-pter region. Conclusions: We suggest that the duplicated chromosome segment 16p13.3 possibly may be responsible for the phenotypes of our case and also may be a candidate locus of non-syndromic PRS. The duplicated CREBBP gene within chromosome 16p13.3 is associated with incomplete penetrance regarding the mandible development anomalies. Further studies of similar cases are needed to support our findings.

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KW - Small supernumerary marker chromosome

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