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Whole exome sequencing improves genetic diagnosis of fetal clubfoot

  • Published:2022-12-25 Issue:3 Volume:142 Page:407-418
  • ISSN:0340-6717
  • Container-title:Human Genetics
  • language:en
  • Short-container-title:Hum Genet

Author:

Huang Ruibin,Zhou Hang,Ma Chunling,Fu Fang,Cheng Ken,Wang You,Li Ru,Lei Tingying,Yu Qiuxia,Wang Dan,Yan Shujuan,Yang Xin,Li Dongzhi,Liao CanORCID

Funder

the sub-project of the National Key R&D Program

National Natural Science Foundation of China

Natural Science Foundation of Guangdong Province

Project of Guangzhou Science and Technology Bureau

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Reference59 articles.

1. Alazami AM, Patel N, Shamseldin HE, Anazi S, Al-Dosari MS, Alzahrani F, Hijazi H, Alshammari M, Aldahmesh MA, Salih MA, Faqeih E, Alhashem A, Bashiri FA, Al-Owain M, Kentab AY, Sogaty S, Al Tala S, Temsah MH, Tulbah M, Aljelaify RF, Alshahwan SA, Seidahmed MZ, Alhadid AA, Aldhalaan H, AlQallaf F, Kurdi W, Alfadhel M, Babay Z, Alsogheer M, Kaya N, Al-Hassnan ZN, Abdel-Salam GM, Al-Sannaa N, Al Mutairi F, El Khashab HY, Bohlega S, Jia X, Nguyen HC, Hammami R, Adly N, Mohamed JY, Abdulwahab F, Ibrahim N, Naim EA, Al-Younes B, Meyer BF, Hashem M, Shaheen R, Xiong Y, Abouelhoda M, Aldeeri AA, Monies DM, Alkuraya FS (2015) Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families. Cell Rep 10:148–161

2. Alvarado DM, Aferol H, McCall K, Huang JB, Techy M, Buchan J, Cady J, Gonzales PR, Dobbs MB, Gurnett CA (2010) Familial isolated clubfoot is associated with recurrent chromosome 17q23.1q23.2 microduplications containing TBX4. Am J Hum Genet 87:154–160

3. Alvarado DM, Buchan JG, Frick SL, Herzenberg JE, Dobbs MB, Gurnett CA (2013) Copy number analysis of 413 isolated talipes equinovarus patients suggests role for transcriptional regulators of early limb development. Eur J Hum Genet 21:373–380

4. Alvarado DM, McCall K, Hecht JT, Dobbs MB, Gurnett CA (2016) Deletions of 5’ HOXC genes are associated with lower extremity malformations, including clubfoot and vertical talus. J Med Genet 53:250–255

5. Bamshad MJ, Ng SB, Bigham AW, Tabor HK, Emond MJ, Nickerson DA, Shendure J (2011) Exome sequencing as a tool for Mendelian disease gene discovery. Nat Rev Genet 12:745–755

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