Somatic mosaicism for a lethalTRPV4mutation results in non-lethal metatropic dysplasia-Reference-Cited by-同舟云学术

Somatic mosaicism for a lethalTRPV4mutation results in non-lethal metatropic dysplasia

Published:2016-08-17 Issue:12 Volume:170 Page:3298-3302
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Weinstein Michael M.¹,Kang Taekyu²,Lachman Ralph S.³,Bamshad Michael⁴⁵⁶⁷,Nickerson Deborah A.⁴⁵,Krakow Deborah³⁸⁹¹⁰,Cohn Daniel H.¹³⁹¹⁰

Affiliation:

1. Department of Molecular, Cell, and Developmental Biology; University of California Los Angeles; Los Angeles

2. Department of Microbiology, Immunology, and Molecular Genetics; University of California Los Angeles; Los Angeles

3. International Skeletal Dysplasia Registry; University of California Los Angeles; Los Angeles

4. Department of Genome Sciences; University of Washington; Seattle

5. University of Washington Center for Mendelian Genomics; University of Washington; Seattle

6. Department of Pediatrics; University of Washington; Seattle

7. Division of Genetic Medicine; Seattle Children's Hospital; Seattle

8. Department of Human Genetics; David Geffen School of Medicine at UCLA; Los Angeles

9. Department of Orthopaedic Surgery; David Geffen School of Medicine at UCLA; Los Angeles

10. Orthopaedic Hospital Research Center; David Geffen School of Medicine at UCLA; Los Angeles

Funder

National Institutes of Health

National Human Genome Research Institute and the National Heart, Lung, and Blood Institute

Joseph Drown Foundation

March of Dimes Foundation

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.37942/fullpdf

Reference19 articles.

1. Alterations in the ankyrin domain of TRPV4 cause congenital distal SMA, scapuloperoneal SMA and HMSN2C;Auer-Grumbach;Nat Genet,2010

2. Dominant TRPV4 mutations in nonlethal and lethal metatropic dysplasia;Camacho;Am J Med Genet Part A,2010

3. Parent of origin, mosaicism, and recurrence risk: Probabilistic modeling explains the broken symmetry of transmission genetics;Campbell;Am J Hum Genet,2014

4. Recurrence of lethal osteogenesis imperfecta due to parental mosaicism for a dominant mutation in a human type I collagen gene (COL1A1);Cohn;Am J Hum Genet,1990

5. Scapuloperoneal spinal muscular atrophy and CMT2C are allelic disorders caused by alterations in TRPV4;Deng;Nat Genet,2010

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