Intragenic microdeletion of RUNX2 is a novel mechanism for cleidocranial dysplasia

Ming Ta Michael Lee; Anne Chun Hui Tsai; Ching Heng Chou; Feng Mei Sun; Li Chen Huang; Pauline Yen; Chyi Chyang Lin; Chih Yang Liu; Jer Yuarn Wu; Yuan Tsong Chen; Fuu Jen Tsai

doi:10.1007/s11568-008-9024-y

Intragenic microdeletion of RUNX2 is a novel mechanism for cleidocranial dysplasia

Ming Ta Michael Lee, Anne Chun Hui Tsai, Ching Heng Chou, Feng Mei Sun, Li Chen Huang, Pauline Yen, Chyi Chyang Lin, Chih Yang Liu, Jer Yuarn Wu, Yuan Tsong Chen, Fuu Jen Tsai

Research output: Contribution to journal › Article › peer-review

19 Scopus citations

Abstract

Cleidocranial dysplasia (CCD; MIM 119600) is a rare autosomal dominant disorder characterized by facial, dental, and skeletal malformations. To date, rearrangement and mutations involving RUNX2, which encodes a transcription factor required for osteoblast differentiation on 6p21, has been the only known molecular etiology for CCD. However, only 70% patients were found to have point mutations, 13% large/contiguous deletion but the rest of 17% remains unknown. We ascertained a family consisted of eight affected individuals with CCD phenotypes. Direct sequencing analysis revealed no mutations in the RUNX2. Real time quantitative PCR were performed which revealed an exon 2 to exon 6 intragenic deletion in RUNX2. Our patients not only demonstrated a unique gene change as a novel mechanism for CCD, but also highlight the importance of considering "deletion" and "duplication" in suspected familial cases before extensive effort of gene hunting be carried.

Original language	English (US)
Pages (from-to)	45-49
Number of pages	5
Journal	Genomic Medicine
Volume	2
Issue number	1-2
DOIs	https://doi.org/10.1007/s11568-008-9024-y
State	Published - Jan 2008
Externally published	Yes

Keywords

Cleidocranial dysplasia
Intragenic deletion
Mechanism
RUNX2

ASJC Scopus subject areas

Genetics
Genetics(clinical)

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10.1007/s11568-008-9024-y

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title = "Intragenic microdeletion of RUNX2 is a novel mechanism for cleidocranial dysplasia",

abstract = "Cleidocranial dysplasia (CCD; MIM 119600) is a rare autosomal dominant disorder characterized by facial, dental, and skeletal malformations. To date, rearrangement and mutations involving RUNX2, which encodes a transcription factor required for osteoblast differentiation on 6p21, has been the only known molecular etiology for CCD. However, only 70% patients were found to have point mutations, 13% large/contiguous deletion but the rest of 17% remains unknown. We ascertained a family consisted of eight affected individuals with CCD phenotypes. Direct sequencing analysis revealed no mutations in the RUNX2. Real time quantitative PCR were performed which revealed an exon 2 to exon 6 intragenic deletion in RUNX2. Our patients not only demonstrated a unique gene change as a novel mechanism for CCD, but also highlight the importance of considering {"}deletion{"} and {"}duplication{"} in suspected familial cases before extensive effort of gene hunting be carried.",

keywords = "Cleidocranial dysplasia, Intragenic deletion, Mechanism, RUNX2",

author = "Lee, {Ming Ta Michael} and Tsai, {Anne Chun Hui} and Chou, {Ching Heng} and Sun, {Feng Mei} and Huang, {Li Chen} and Pauline Yen and Lin, {Chyi Chyang} and Liu, {Chih Yang} and Wu, {Jer Yuarn} and Chen, {Yuan Tsong} and Tsai, {Fuu Jen}",

note = "Funding Information: Acknowledgments We would like to thank Yi-Wen Lin for her assistance in the Southern blot analysis. This research project was supported by grants from the National Research Program for Genomic Medicine, National Science Council, Taiwan (National Clinical Core, NSC95-3112-B-001-010 and National Genotyping Center, NSC95-3112-B -001-011). The authors declare no conflict of interests.",

year = "2008",

month = jan,

doi = "10.1007/s11568-008-9024-y",

language = "English (US)",

volume = "2",

pages = "45--49",

journal = "Genomic Medicine",

issn = "1871-7934",

publisher = "Springer Verlag",

number = "1-2",

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TY - JOUR

T1 - Intragenic microdeletion of RUNX2 is a novel mechanism for cleidocranial dysplasia

AU - Lee, Ming Ta Michael

AU - Tsai, Anne Chun Hui

AU - Chou, Ching Heng

AU - Sun, Feng Mei

AU - Huang, Li Chen

AU - Yen, Pauline

AU - Lin, Chyi Chyang

AU - Liu, Chih Yang

AU - Wu, Jer Yuarn

AU - Chen, Yuan Tsong

AU - Tsai, Fuu Jen

N1 - Funding Information: Acknowledgments We would like to thank Yi-Wen Lin for her assistance in the Southern blot analysis. This research project was supported by grants from the National Research Program for Genomic Medicine, National Science Council, Taiwan (National Clinical Core, NSC95-3112-B-001-010 and National Genotyping Center, NSC95-3112-B -001-011). The authors declare no conflict of interests.

PY - 2008/1

Y1 - 2008/1

N2 - Cleidocranial dysplasia (CCD; MIM 119600) is a rare autosomal dominant disorder characterized by facial, dental, and skeletal malformations. To date, rearrangement and mutations involving RUNX2, which encodes a transcription factor required for osteoblast differentiation on 6p21, has been the only known molecular etiology for CCD. However, only 70% patients were found to have point mutations, 13% large/contiguous deletion but the rest of 17% remains unknown. We ascertained a family consisted of eight affected individuals with CCD phenotypes. Direct sequencing analysis revealed no mutations in the RUNX2. Real time quantitative PCR were performed which revealed an exon 2 to exon 6 intragenic deletion in RUNX2. Our patients not only demonstrated a unique gene change as a novel mechanism for CCD, but also highlight the importance of considering "deletion" and "duplication" in suspected familial cases before extensive effort of gene hunting be carried.

AB - Cleidocranial dysplasia (CCD; MIM 119600) is a rare autosomal dominant disorder characterized by facial, dental, and skeletal malformations. To date, rearrangement and mutations involving RUNX2, which encodes a transcription factor required for osteoblast differentiation on 6p21, has been the only known molecular etiology for CCD. However, only 70% patients were found to have point mutations, 13% large/contiguous deletion but the rest of 17% remains unknown. We ascertained a family consisted of eight affected individuals with CCD phenotypes. Direct sequencing analysis revealed no mutations in the RUNX2. Real time quantitative PCR were performed which revealed an exon 2 to exon 6 intragenic deletion in RUNX2. Our patients not only demonstrated a unique gene change as a novel mechanism for CCD, but also highlight the importance of considering "deletion" and "duplication" in suspected familial cases before extensive effort of gene hunting be carried.

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KW - Intragenic deletion

KW - Mechanism

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Intragenic microdeletion of RUNX2 is a novel mechanism for cleidocranial dysplasia

Abstract

Keywords

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