Risk of meningomyelocele mediated by the common 22q11.2 deletion-Reference-Cited by-同舟云学术

Risk of meningomyelocele mediated by the common 22q11.2 deletion

Published:2024-05-03 Issue:6695 Volume:384 Page:584-590
ISSN:0036-8075
Container-title:Science
language:en
Short-container-title:Science

Author:

Vong Keng Ioi¹²^ORCID,Lee Sangmoon¹²^ORCID,Au Kit Sing³^ORCID,Crowley T. Blaine⁴^ORCID,Capra Valeria⁵^ORCID,Martino Jeremiah⁶^ORCID,Haller Meade⁷^ORCID,Araújo Camila⁸,Machado Hélio R.⁸,George Renee¹²^ORCID,Gerding Bryn¹²^ORCID,James Kiely N.¹²^ORCID,Stanley Valentina¹²^ORCID,Jiang Nan¹²,Alu Kameron¹²,Meave Naomi¹²,Nidhiry Anna S.²^ORCID,Jiwani Fiza¹²^ORCID,Tang Isaac¹²,Nisal Ashna¹²^ORCID,Jhamb Ishani¹²,Patel Arzoo¹²^ORCID,Patel Aakash¹²^ORCID,McEvoy-Venneri Jennifer¹²,Barrows Chelsea¹²^ORCID,Shen Celina¹²,Ha Yoo-Jin¹²^ORCID,Howarth Robyn¹²,Strain Madison⁹^ORCID,Ashley-Koch Allison Elizabeth⁹^ORCID,Azam Matloob¹⁰^ORCID,Mumtaz Sara¹¹^ORCID,Bot Gyang Markus¹²^ORCID,Finnell Richard H.¹³,Kibar Zoha¹⁴,Marwan Ahmed I.¹⁵^ORCID,Melikishvili Gia¹⁶^ORCID,Meltzer Hal S.¹⁷^ORCID,Mutchinick Osvaldo M.¹⁸,Stevenson David A.¹⁹,Mroczkowski Henry J.²⁰^ORCID,Ostrander Betsy²¹,Schindewolf Erica²²,Moldenhauer Julie²²,Zackai Elaine H.⁴^ORCID,Emanuel Beverly S.⁴,Garcia-Minaur Sixto²³^ORCID,Nowakowska Beata A.²⁴^ORCID,Stevenson Roger E.²⁵^ORCID,Zaki Maha S.²⁶^ORCID,Northrup Hope³^ORCID,McNamara Hanna K.²⁷,Aldinger Kimberly A.²⁷²⁸²⁹^ORCID,Phelps Ian G.²⁸,Deng Mei²⁸^ORCID,Glass Ian A.²⁸^ORCID, ,Morrow Bernice³⁰^ORCID,McDonald-McGinn Donna M.⁴³¹^ORCID,Sanna-Cherchi Simone⁶^ORCID,Lamb Dolores J.⁷³²,Gleeson Joseph G.¹²,Koch Allison Elizabeth Ashley,Meltzer Hal S.,Le Joan,Au Kit Sing,Northrup Hope,Bot Gyang Markus,Capra Valeria,Finnell Richard H.,Kibar Zoha,Lupo Philip J.,Machado Helio R.,Araújo Camila,Magana Tony,Marwan Ahmed I.,Melikishvili Gia,Mutchinick Osvaldo M.,Stevenson Roger E.,Yurrita Anna,Zaki Maha S.,Mumtaz Sara,Medina-Bereciartu José Ramón,Kolvenbach Caroline M.,Shril Shirlee,Hildebrandt Friedhelm,Noureldeen Mahmoud M.,Salem Aida MS.,Takahashi Yukitoshi,Salimi-Dafsari Hormos,Phillips H. Westley,Hanak Brian,Kara Bülent,Güneş Ayfer Sakarya,Gonda David D.,Kirmani Salman,Tkemaladze Tinatin,Gleeson Joseph G.

Affiliation:

1. Department of Neurosciences, University of California, San Diego, La Jolla, CA 92093, USA.

2. Rady Children’s Institute for Genomic Medicine, San Diego, CA 92123, USA.

3. Department of Pediatrics, McGovern Medical School at the University of Texas Health Science Center at Houston (UTHealth) and Children’s Memorial Hermann Hospital, Houston, TX 77030, USA.

4. 22q and You Center, Division of Human Genetics, Children’s Hospital of Philadelphia and Department of Pediatrics, Perelman School of Medicine of the University of Pennsylvania, Philadelphia, PA 19104, USA.

5. Genomics and Clinical Genetics Unit, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy.

6. Division of Nephrology, Department of Medicine, Columbia University, NY 10027, USA.

7. Center for Reproductive Medicine, Department of Molecular and Cellular Biology and Scott Department of Urology, Baylor College of Medicine, TX 77030, USA.

8. Department of Surgery and Anatomy, Ribeirão Preto Medical School, University of São Paulo, Ribeirão Preto 14040-900, Brazil.

9. Duke Molecular Physiology Institute, Duke University Medical Center, Durham, NC 27710, USA.

10. Pediatrics and Child Neurology, Wah Medical College, Wah Cantt, Punjab 47000, Pakistan.

11. Department of Biological Sciences, National University of Medical Sciences (NUMS), Punjab 46000, Pakistan.

12. Neurosurgery Division, Department of Surgery, Jos University Teaching Hospital, Jos 930105, Nigeria.

13. Center for Precision Environmental Health, Departments of Molecular and Human Genetics, Molecular and Cellular Biology and Medicine, Baylor College of Medicine, Houston, TX 77030, USA.

14. Department of Neurosciences, University of Montreal and CHU Sainte Justine Research Center, Montreal, QC H3T 1C5, Canada.

15. Division of Pediatric Surgery, University of Colorado School of Medicine, Children’s Hospital of Colorado, Colorado Fetal Care Center, Aurora, CO 80045, USA.

16. Department of Pediatrics, MediClubGeorgia Medical Center, Tbilisi 0160, Georgia.

17. Department of Neurosurgery, University of California San Diego, Rady Children’s Hospital, San Diego, CA 92123, USA.

18. Department of Genetics, Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, 14080 Mexico City, Mexico.

19. Division of Medical Genetics, Stanford University, Palo Alto, CA 94305, USA.

20. Division of Medical Genetics, University of Tennessee Health Science Campus, Memphis, TN 38163, USA.

21. Division of Pediatric Neurology, Primary Children’s Hospital, University of Utah, Salt Lake City, UT 84113, USA.

22. Center for Fetal Diagnosis and Treatment, Children’s Hospital of Philadelphia, Philadelphia, PA 19104, USA.

23. Clinical Genetics Section, Institute of Medical and Molecular Genetics, University Hospital La Paz, 28046 Madrid, Spain.

24. Department of Medical Genetics, Institute of Mother and Child, Kasprzaka, 01-211 Warsaw, Poland.

25. JC Self Research Institute of Human Genetics, Greenwood Genetic Center, Greenwood, SC 29646, USA.

26. Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo 12311, Egypt.

27. Center for Integrative Brain Research, Seattle Children’s Research Institute, Seattle, WA 98101, USA.

28. Departments of Pediatrics, University of Washington, Seattle, WA 98105, USA.

29. Department of Neurology, University of Washington, Seattle, WA 98105, USA.

30. Division of Translational Genetics, Department of Genetics, Albert Einstein College of Medicine, Bronx, NY 10461, USA.

31. Department of Human Biology and Medical Genetics, Sapienza University, 00185-Rome RM, Italy.

32. Department of Urology, Center for Reproductive Genomics, Englander Institute for Precision Medicine, Weill Cornell Medicine, New York, NY 10021, USA.

Abstract

Meningomyelocele is one of the most severe forms of neural tube defects (NTDs) and the most frequent structural birth defect of the central nervous system. We assembled the Spina Bifida Sequencing Consortium to identify causes. Exome and genome sequencing of 715 parent-offspring trios identified six patients with chromosomal 22q11.2 deletions, suggesting a 23-fold increased risk compared with the general population. Furthermore, analysis of a separate 22q11.2 deletion cohort suggested a 12- to 15-fold increased NTD risk of meningomyelocele. The loss of Crkl , one of several neural tube–expressed genes within the minimal deletion interval, was sufficient to replicate NTDs in mice, where both penetrance and expressivity were exacerbated by maternal folate deficiency. Thus, the common 22q11.2 deletion confers substantial meningomyelocele risk, which is partially alleviated by folate supplementation.

Publisher

American Association for the Advancement of Science (AAAS)

Link

https://www.science.org/doi/pdf/10.1126/science.adl1624

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