Literature DB >> 29168297

Single suture craniosynostosis: Identification of rare variants in genes associated with syndromic forms.

Christine M Clarke1, Vincent T Fok1, Jennifer A Gustafson1, Matthew D Smyth2,3, Andrew E Timms1, Chris D Frazar4, Joshua D Smith4, Craig B Birgfeld5,6,7, Amy Lee7,8,9, Richard G Ellenbogen7,8,9, Joseph S Gruss5,6,7, Richard A Hopper5,6,7, Michael L Cunningham1,7,10.   

Abstract

We report RNA-Sequencing results on a cohort of patients with single suture craniosynostosis and demonstrate significant enrichment of heterozygous, rare, and damaging variants among key craniosynostosis-related genes. Genetic burden analysis identified a significant increase in damaging variants in ATR, EFNA4, ERF, MEGF8, SCARF2, and TGFBR2. Of 391 participants, 15% were found to have damaging and potentially causal variants in 29 genes. We observed transmission in 96% of the affected individuals, and thus penetrance, epigenetics, and oligogenic factors need to be considered when recommending genetic testing in patients with nonsyndromic craniosynostosis.
© 2017 Wiley Periodicals, Inc.

Entities:  

Keywords:  RNA sequencing; craniosynostosis; enrichment; gene burden; non syndromic; protein domains; single suture; variants

Year:  2017        PMID： 29168297      PMCID： PMC5768450          DOI： 10.1002/ajmg.a.38540

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN： 1552-4825            Impact factor:   2.802


  40 in total

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2.  Prevalence and complications of single-gene and chromosomal disorders in craniosynostosis.

Authors:  Andrew O M Wilkie; Jo C Byren; Jane A Hurst; Jayaratnam Jayamohan; David Johnson; Samantha J L Knight; Tracy Lester; Peter G Richards; Stephen R F Twigg; Steven A Wall
Journal:  Pediatrics       Date:  2010-07-19       Impact factor: 7.124

3.  Mapping short DNA sequencing reads and calling variants using mapping quality scores.

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4.  Bedside Back to Bench: Building Bridges between Basic and Clinical Genomic Research.

Authors:  Teri A Manolio; Douglas M Fowler; Lea M Starita; Melissa A Haendel; Daniel G MacArthur; Leslie G Biesecker; Elizabeth Worthey; Rex L Chisholm; Eric D Green; Howard J Jacob; Howard L McLeod; Dan Roden; Laura Lyman Rodriguez; Marc S Williams; Gregory M Cooper; Nancy J Cox; Gail E Herman; Stephen Kingsmore; Cecilia Lo; Cathleen Lutz; Calum A MacRae; Robert L Nussbaum; Jose M Ordovas; Erin M Ramos; Peter N Robinson; Wendy S Rubinstein; Christine Seidman; Barbara E Stranger; Haoyi Wang; Monte Westerfield; Carol Bult
Journal:  Cell       Date:  2017-03-23       Impact factor: 41.582

5.  A population-based study of craniosynostosis in metropolitan Atlanta, 1989-2003.

Authors:  Sheree L Boulet; Sonja A Rasmussen; Margaret A Honein
Journal:  Am J Med Genet A       Date:  2008-04-15       Impact factor: 2.802

6.  The changing epidemiologic spectrum of single-suture synostoses.

Authors:  Jesse Selber; Russell R Reid; Chuma J Chike-Obi; Leslie N Sutton; Elaine H Zackai; Donna McDonald-McGinn; Seema S Sonnad; Linton A Whitaker; Scott P Bartlett
Journal:  Plast Reconstr Surg       Date:  2008-08       Impact factor: 4.730

7.  Cell mixing at a neural crest-mesoderm boundary and deficient ephrin-Eph signaling in the pathogenesis of craniosynostosis.

Authors:  Amy E Merrill; Elena G Bochukova; Sean M Brugger; Mamoru Ishii; Daniela T Pilz; Steven A Wall; Karen M Lyons; Andrew O M Wilkie; Robert E Maxson
Journal:  Hum Mol Genet       Date:  2006-03-15       Impact factor: 6.150

Review 8.  Genetic analysis of non-syndromic craniosynostosis.

Authors:  S A Boyadjiev
Journal:  Orthod Craniofac Res       Date:  2007-08       Impact factor: 1.826

9.  Mutations in multidomain protein MEGF8 identify a Carpenter syndrome subtype associated with defective lateralization.

Authors:  Stephen R F Twigg; Deborah Lloyd; Dagan Jenkins; Nursel E Elçioglu; Christopher D O Cooper; Nouriya Al-Sannaa; Ali Annagür; Gabriele Gillessen-Kaesbach; Irina Hüning; Samantha J L Knight; Judith A Goodship; Bernard D Keavney; Philip L Beales; Opher Gileadi; Simon J McGowan; Andrew O M Wilkie
Journal:  Am J Hum Genet       Date:  2012-10-11       Impact factor: 11.025

10.  TopHat2: accurate alignment of transcriptomes in the presence of insertions, deletions and gene fusions.

Authors:  Daehwan Kim; Geo Pertea; Cole Trapnell; Harold Pimentel; Ryan Kelley; Steven L Salzberg
Journal:  Genome Biol       Date:  2013-04-25       Impact factor: 13.583
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  8 in total

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Journal:  Oxid Med Cell Longev       Date:  2022-05-09       Impact factor: 7.310

2.  Cranial growth in isolated sagittal craniosynostosis compared with normal growth in the first 6 months of age.

Authors:  Ezgi Mercan; Richard A Hopper; A Murat Maga
Journal:  J Anat       Date:  2019-11-06       Impact factor: 2.610

3.  Calvarial osteoblast gene expression in patients with craniosynostosis leads to novel polygenic mouse model.

Authors:  Jonas A Gustafson; Sarah S Park; Michael L Cunningham
Journal:  PLoS One       Date:  2019-08-23       Impact factor: 3.240

4.  The mutational burden and oligogenic inheritance in Klippel-Feil syndrome.

Authors:  Ziquan Li; Sen Zhao; Siyi Cai; Yuanqiang Zhang; Lianlei Wang; Yuchen Niu; Xiaoxin Li; Jianhua Hu; Jingdan Chen; Shengru Wang; Huizi Wang; Gang Liu; Ye Tian; Zhihong Wu; Terry Jianguo Zhang; Yipeng Wang; Nan Wu
Journal:  BMC Musculoskelet Disord       Date:  2020-04-11       Impact factor: 2.362

5.  Mechanism of Disease: Recessive ADAMTSL4 Mutations and Craniosynostosis with Ectopia Lentis.

Authors:  Jonas Gustafson; Maria Bjork; Conny M A van Ravenswaaij-Arts; Michael L Cunningham
Journal:  Case Rep Genet       Date:  2022-03-26

6.  TBX3 and EFNA4 Variant in a Family with Ulnar-Mammary Syndrome and Sagittal Craniosynostosis.

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7.  Redefining the catalytic HECT domain boundaries for the HECT E3 ubiquitin ligase family.

Authors:  Emma I Kane; Steven A Beasley; Johanna M Schafer; Justine E Bohl; Young Sun Lee; Kayla J Rich; Elizabeth F Bosia; Donald E Spratt
Journal:  Biosci Rep       Date:  2022-10-28       Impact factor: 3.976

8.  Unexpected role of SIX1 variants in craniosynostosis: expanding the phenotype of SIX1-related disorders.

Authors:  Eduardo Calpena; Maud Wurmser; Simon J McGowan; Rodrigo Atique; Débora R Bertola; Michael L Cunningham; Jonas A Gustafson; David Johnson; Jenny E V Morton; Maria Rita Passos-Bueno; Andrew T Timberlake; Richard P Lifton; Steven A Wall; Stephen R F Twigg; Pascal Maire; Andrew O M Wilkie
Journal:  J Med Genet       Date:  2021-01-12       Impact factor: 6.318
  8 in total

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