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Breakpoint mapping by whole genome sequencing identifies PTH2R gene disruption in a patient with midline craniosynostosis and a de novo balanced chromosomal rearrangement.

 Juwon Kim  ;  Hong Hee Won  ;  Yoonjung Kim  ;  Jong Rak Choi  ;  Nae Yu  ;  Kyung A Lee 
 JOURNAL OF MEDICAL GENETICS, Vol.52(10) : 706-709, 2015 
Journal Title
Issue Date
Chromosome Inversion ; Comparative Genomic Hybridization ; Craniosynostoses/genetics* ; Humans ; In Situ Hybridization, Fluorescence ; Infant ; Male ; Receptor, Parathyroid Hormone, Type 2/deficiency ; Receptor, Parathyroid Hormone, Type 2/genetics* ; Sequence Analysis, DNA ; Translocation, Genetic
Chromosomal ; Clinical genetics ; Developmental
Background : Craniosynostosis (CRS) is a premature closure of calvarial sutures caused by gene mutation or environmental factors or interaction between the two. Only a small proportion of non-syndromic CRS (NSC) patients have a known genetic cause, and thus, it would be meaningful to search for a causative gene disruption for the development NSC. We applied a whole genome sequencing approach on a 15-month-old boy with sagittal and metopic synostosis to identify a gene responsible for the development of the disease. Methods and results : Conventional chromosome study revealed a complex paracentric inversion involving 2q14.3 and 2q34. Array comparative genomic hybridisation did not show any copy number variation. Multicolour banding analysis was carried out and the breakpoints were refined to 2q14 and 2q34. An intronic break of the PTH2R gene was detected by whole genome sequencing and fluorescence in situ hybridisation analysis confirmed disruption of PTH2R. Conclusions : We report PTH2R as a gene that is disrupted in NSC. The disruption of the PTH2R gene may cause uncontrolled proliferation and differentiation of chondrocytes, which in turn results in premature closure of sutures. This addition of PTH2R to the list of genes associated with NSC expands our understanding of the development of NSC.
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1. College of Medicine (의과대학) > Dept. of Laboratory Medicine (진단검사의학교실) > 1. Journal Papers
Yonsei Authors
Kim, Yoon Jung(김윤정) ORCID logo https://orcid.org/0000-0002-4370-4265
Yu, Nae(유내)
Lee, Kyung A(이경아) ORCID logo https://orcid.org/0000-0001-5320-6705
Choi, Jong Rak(최종락) ORCID logo https://orcid.org/0000-0002-0608-2989
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