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

Meningomyelocele / genetics Humans Mice Animals Female Chromosomes, Human, Pair 22 / genetics Folic Acid Folic Acid Deficiency / complications Male DiGeorge Syndrome / genetics Exome Sequencing Chromosome Deletion Penetrance Spinal Dysraphism / genetics Neural Tube Defects / genetics

Journal

Science (New York, N.Y.)
ISSN: 1095-9203
Titre abrégé: Science
Pays: United States
ID NLM: 0404511

Informations de publication

Date de publication:
03 May 2024
Historique:
medline: 2 5 2024
pubmed: 2 5 2024
entrez: 2 5 2024
Statut: ppublish

Résumé

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

Identifiants

DOI: 10.1126/science.adl1624 PMID: 38696583
pubmed: 38696583
doi: 10.1126/science.adl1624
doi:

Substances chimiques

Folic Acid 935E97BOY8

Types de publication

Journal Article Research Support, Non-U.S. Gov't Research Support, N.I.H., Extramural

Langues

eng

Sous-ensembles de citation

IM

Pagination

584-590

Auteurs

Keng Ioi Vong (KI)

Department of Neurosciences, University of California, San Diego, La Jolla, CA 92093, USA.
Rady Children's Institute for Genomic Medicine, San Diego, CA 92123, USA.
ORCID: 0000-0001-5377-9845

Sangmoon Lee (S)

Department of Neurosciences, University of California, San Diego, La Jolla, CA 92093, USA.
Rady Children's Institute for Genomic Medicine, San Diego, CA 92123, USA.
ORCID: 0000-0002-7723-5946

Kit Sing Au (KS)

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.
ORCID: 0000-0002-2694-5833

T Blaine Crowley (TB)

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.
ORCID: 0000-0002-3272-5458

Valeria Capra (V)

Genomics and Clinical Genetics Unit, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy.
ORCID: 0000-0002-3097-0388

Jeremiah Martino (J)

Division of Nephrology, Department of Medicine, Columbia University, NY 10027, USA.
ORCID: 0000-0001-8398-2801

Meade Haller (M)

Center for Reproductive Medicine, Department of Molecular and Cellular Biology and Scott Department of Urology, Baylor College of Medicine, TX 77030, USA.
ORCID: 0000-0001-6083-7660

Camila Araújo (C)

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

Hélio R Machado (HR)

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

Renee George (R)

Department of Neurosciences, University of California, San Diego, La Jolla, CA 92093, USA.
Rady Children's Institute for Genomic Medicine, San Diego, CA 92123, USA.
ORCID: 0000-0003-0733-9691

Bryn Gerding (B)

Department of Neurosciences, University of California, San Diego, La Jolla, CA 92093, USA.
Rady Children's Institute for Genomic Medicine, San Diego, CA 92123, USA.
ORCID: 0009-0007-4141-1665

Kiely N James (KN)

Department of Neurosciences, University of California, San Diego, La Jolla, CA 92093, USA.
Rady Children's Institute for Genomic Medicine, San Diego, CA 92123, USA.
ORCID: 0000-0001-8409-4363

Valentina Stanley (V)

Department of Neurosciences, University of California, San Diego, La Jolla, CA 92093, USA.
Rady Children's Institute for Genomic Medicine, San Diego, CA 92123, USA.
ORCID: 0000-0002-2212-7796

Nan Jiang (N)

Department of Neurosciences, University of California, San Diego, La Jolla, CA 92093, USA.
Rady Children's Institute for Genomic Medicine, San Diego, CA 92123, USA.

Kameron Alu (K)

Department of Neurosciences, University of California, San Diego, La Jolla, CA 92093, USA.
Rady Children's Institute for Genomic Medicine, San Diego, CA 92123, USA.

Naomi Meave (N)

Department of Neurosciences, University of California, San Diego, La Jolla, CA 92093, USA.
Rady Children's Institute for Genomic Medicine, San Diego, CA 92123, USA.

Anna S Nidhiry (AS)

Rady Children's Institute for Genomic Medicine, San Diego, CA 92123, USA.
ORCID: 0000-0001-7119-0153

Fiza Jiwani (F)

Department of Neurosciences, University of California, San Diego, La Jolla, CA 92093, USA.
Rady Children's Institute for Genomic Medicine, San Diego, CA 92123, USA.
ORCID: 0009-0006-2342-481X

Isaac Tang (I)

Department of Neurosciences, University of California, San Diego, La Jolla, CA 92093, USA.
Rady Children's Institute for Genomic Medicine, San Diego, CA 92123, USA.

Ashna Nisal (A)

Department of Neurosciences, University of California, San Diego, La Jolla, CA 92093, USA.
Rady Children's Institute for Genomic Medicine, San Diego, CA 92123, USA.
ORCID: 0009-0000-4384-1027

Ishani Jhamb (I)

Department of Neurosciences, University of California, San Diego, La Jolla, CA 92093, USA.
Rady Children's Institute for Genomic Medicine, San Diego, CA 92123, USA.

Arzoo Patel (A)

Department of Neurosciences, University of California, San Diego, La Jolla, CA 92093, USA.
Rady Children's Institute for Genomic Medicine, San Diego, CA 92123, USA.
ORCID: 0009-0007-9033-5785

Aakash Patel (A)

Department of Neurosciences, University of California, San Diego, La Jolla, CA 92093, USA.
Rady Children's Institute for Genomic Medicine, San Diego, CA 92123, USA.
ORCID: 0009-0000-3633-0798

Jennifer McEvoy-Venneri (J)

Department of Neurosciences, University of California, San Diego, La Jolla, CA 92093, USA.
Rady Children's Institute for Genomic Medicine, San Diego, CA 92123, USA.

Chelsea Barrows (C)

Department of Neurosciences, University of California, San Diego, La Jolla, CA 92093, USA.
Rady Children's Institute for Genomic Medicine, San Diego, CA 92123, USA.
ORCID: 0009-0007-8106-9446

Celina Shen (C)

Department of Neurosciences, University of California, San Diego, La Jolla, CA 92093, USA.
Rady Children's Institute for Genomic Medicine, San Diego, CA 92123, USA.

Yoo-Jin Ha (YJ)

Department of Neurosciences, University of California, San Diego, La Jolla, CA 92093, USA.
Rady Children's Institute for Genomic Medicine, San Diego, CA 92123, USA.
ORCID: 0000-0003-1667-8054

Robyn Howarth (R)

Department of Neurosciences, University of California, San Diego, La Jolla, CA 92093, USA.
Rady Children's Institute for Genomic Medicine, San Diego, CA 92123, USA.

Madison Strain (M)

Duke Molecular Physiology Institute, Duke University Medical Center, Durham, NC 27710, USA.
ORCID: 0000-0002-4092-0958

Allison Elizabeth Ashley-Koch (AE)

Duke Molecular Physiology Institute, Duke University Medical Center, Durham, NC 27710, USA.
ORCID: 0000-0001-5409-9155

Matloob Azam (M)

Pediatrics and Child Neurology, Wah Medical College, Wah Cantt, Punjab 47000, Pakistan.
ORCID: 0009-0000-2847-7909

Sara Mumtaz (S)

Department of Biological Sciences, National University of Medical Sciences (NUMS), Punjab 46000, Pakistan.
ORCID: 0000-0003-0503-1060

Gyang Markus Bot (GM)

Neurosurgery Division, Department of Surgery, Jos University Teaching Hospital, Jos 930105, Nigeria.
ORCID: 0000-0002-2897-5470

Richard H Finnell (RH)

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.

Zoha Kibar (Z)

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

Ahmed I Marwan (AI)

Division of Pediatric Surgery, University of Colorado School of Medicine, Children's Hospital of Colorado, Colorado Fetal Care Center, Aurora, CO 80045, USA.
ORCID: 0000-0002-2194-791X

Gia Melikishvili (G)

Department of Pediatrics, MediClubGeorgia Medical Center, Tbilisi 0160, Georgia.
ORCID: 0000-0002-5651-5981

Hal S Meltzer (HS)

Department of Neurosurgery, University of California San Diego, Rady Children's Hospital, San Diego, CA 92123, USA.
ORCID: 0000-0001-5608-8900

Osvaldo M Mutchinick (OM)

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

David A Stevenson (DA)

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

Henry J Mroczkowski (HJ)

Division of Medical Genetics, University of Tennessee Health Science Campus, Memphis, TN 38163, USA.
ORCID: 0000-0001-8863-7628

Betsy Ostrander (B)

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

Erica Schindewolf (E)

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

Julie Moldenhauer (J)

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

Elaine H Zackai (EH)

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.
ORCID: 0000-0002-8002-893X

Beverly S Emanuel (BS)

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.

Sixto Garcia-Minaur (S)

Clinical Genetics Section, Institute of Medical and Molecular Genetics, University Hospital La Paz, 28046 Madrid, Spain.
ORCID: 0000-0003-3406-3424

Beata A Nowakowska (BA)

Department of Medical Genetics, Institute of Mother and Child, Kasprzaka, 01-211 Warsaw, Poland.
ORCID: 0000-0001-9095-8906

Roger E Stevenson (RE)

JC Self Research Institute of Human Genetics, Greenwood Genetic Center, Greenwood, SC 29646, USA.
ORCID: 0000-0002-1806-6345

Maha S Zaki (MS)

Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo 12311, Egypt.
ORCID: 0000-0001-7840-0002

Hope Northrup (H)

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.
ORCID: 0000-0002-2892-0840

Hanna K McNamara (HK)

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

Kimberly A Aldinger (KA)

Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA 98101, USA.
Departments of Pediatrics, University of Washington, Seattle, WA 98105, USA.
Department of Neurology, University of Washington, Seattle, WA 98105, USA.
ORCID: 0000-0002-5406-8911

Ian G Phelps (IG)

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

Mei Deng (M)

Departments of Pediatrics, University of Washington, Seattle, WA 98105, USA.
ORCID: 0000-0003-0480-5730

Ian A Glass (IA)

Departments of Pediatrics, University of Washington, Seattle, WA 98105, USA.
ORCID: 0000-0001-6762-8407

Bernice Morrow (B)

Division of Translational Genetics, Department of Genetics, Albert Einstein College of Medicine, Bronx, NY 10461, USA.
ORCID: 0000-0002-8076-4726

Donna M McDonald-McGinn (DM)

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.
Department of Human Biology and Medical Genetics, Sapienza University, 00185-Rome RM, Italy.
ORCID: 0000-0003-4077-250X

Simone Sanna-Cherchi (S)

Division of Nephrology, Department of Medicine, Columbia University, NY 10027, USA.
ORCID: 0000-0002-6185-948X

Dolores J Lamb (DJ)

Center for Reproductive Medicine, Department of Molecular and Cellular Biology and Scott Department of Urology, Baylor College of Medicine, TX 77030, USA.
Department of Urology, Center for Reproductive Genomics, Englander Institute for Precision Medicine, Weill Cornell Medicine, New York, NY 10021, USA.

Joseph G Gleeson (JG)

Department of Neurosciences, University of California, San Diego, La Jolla, CA 92093, USA.
Rady Children's Institute for Genomic Medicine, San Diego, CA 92123, USA.

Allison Elizabeth Ashley Koch (AEA)

Hal S Meltzer (HS)

Joan Le (J)

Kit Sing Au (KS)

Hope Northrup (H)

Gyang Markus Bot (GM)

Valeria Capra (V)

Richard H Finnell (RH)

Zoha Kibar (Z)

Philip J Lupo (PJ)

Helio R Machado (HR)

Camila Araújo (C)

Tony Magana (T)

Ahmed I Marwan (AI)

Gia Melikishvili (G)

Osvaldo M Mutchinick (OM)

Roger E Stevenson (RE)

Anna Yurrita (A)

Maha S Zaki (MS)

Sara Mumtaz (S)

José Ramón Medina-Bereciartu (JR)

Caroline M Kolvenbach (CM)

Shirlee Shril (S)

Friedhelm Hildebrandt (F)

Mahmoud M Noureldeen (MM)

Aida Ms Salem (AM)

Yukitoshi Takahashi (Y)

Hormos Salimi-Dafsari (H)

H Westley Phillips (HW)

Brian Hanak (B)

Bülent Kara (B)

Ayfer Sakarya Güneş (AS)

David D Gonda (DD)

Salman Kirmani (S)

Tinatin Tkemaladze (T)

Joseph G Gleeson (JG)

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Classifications MeSH

questionsmedicales.fr › Malformations et maladies congénitales, héréditaires et néonatales › Malformations › Malformations du système nerveux › Anomalies du tube neural › Myéloméningocèle › Risk of meningomyelocele mediated by the...
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Risk of meningomyelocele mediated by the...
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Rodentia › Muridae › Murinae › Souris › Risk of meningomyelocele mediated by the...
questionsmedicales.fr › Eucaryotes › Animaux › Risk of meningomyelocele mediated by the...
questionsmedicales.fr › Phénomènes génétiques › Structures génétiques › Chromosomes › Chromosomes de mammifère › Chromosomes humains › Chromosomes humains 21-22 et Y › Chromosomes humains de la paire 22 › Risk of meningomyelocele mediated by the...
questionsmedicales.fr › Composés hétérocycliques › Composés hétérocycliques à cycles fusionnés › Composés hétérobicycliques › Ptéridines › Acide folique › Risk of meningomyelocele mediated by the...
questionsmedicales.fr › Maladies métaboliques et nutritionnelles › Troubles nutritionnels › Malnutrition › Maladies de carence › Avitaminoses › Carence en vitamines B › Carence en acide folique › Risk of meningomyelocele mediated by the...
questionsmedicales.fr › Maladies endocriniennes › Maladies de la parathyroïde › Hypoparathyroïdie › Syndrome de délétion 22q11 › Syndrome de DiGeorge › Risk of meningomyelocele mediated by the...
questionsmedicales.fr › Techniques d'investigation › Techniques génétiques › Analyse de séquence › Analyse de séquence d'ADN › Séquençage du génome entier › Séquençage de l'exome › Risk of meningomyelocele mediated by the...
questionsmedicales.fr › Phénomènes génétiques › Ploïdies › Aneuploïdie › Monosomie › Délétion de segment de chromosome › Risk of meningomyelocele mediated by the...
questionsmedicales.fr › Phénomènes génétiques › Phénotype › Pénétrance › Risk of meningomyelocele mediated by the...
questionsmedicales.fr › Malformations et maladies congénitales, héréditaires et néonatales › Malformations › Malformations du système nerveux › Anomalies du tube neural › Dysraphie spinale › Risk of meningomyelocele mediated by the...
questionsmedicales.fr › Malformations et maladies congénitales, héréditaires et néonatales › Malformations › Malformations du système nerveux › Anomalies du tube neural › Risk of meningomyelocele mediated by the...