دورية أكاديمية
De novo missense variants in ZBTB47 are associated with developmental delays, hypotonia, seizures, gait abnormalities, and variable movement abnormalities.
| العنوان: | De novo missense variants in ZBTB47 are associated with developmental delays, hypotonia, seizures, gait abnormalities, and variable movement abnormalities. |
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| المؤلفون: | Ward SK; Department of Molecular and Human Genetics, Baylor College of Medicine (BCM), Houston, Texas, USA.; Department of Pediatrics, Division of Medical Genetics and Genomic Medicine, Vanderbilt University Medical Center, Nashville, Tennessee, USA., Wadley A; Department of Pediatrics, Section of Genetics, University of Oklahoma Health Sciences Center, Oklahoma City, Oklahoma, USA.; University of Arkansas for Medical Sciences, Little Rock, Arkansas, USA., Tsai CA; Department of Pediatrics, Section of Genetics, University of Oklahoma Health Sciences Center, Oklahoma City, Oklahoma, USA., Benke PJ; Joe DiMaggio Children's Hospital, Hollywood, Florida, USA., Emrick L; Department of Pediatrics, Section of Neurology and Developmental Neuroscience, Baylor College of Medicine (BCM), Houston, Texas, USA., Fisher K; Department of Pediatrics, Section of Neurology and Developmental Neuroscience, Baylor College of Medicine (BCM), Houston, Texas, USA., Houck KM; Department of Pediatrics, Section of Neurology and Developmental Neuroscience, Baylor College of Medicine (BCM), Houston, Texas, USA., Dai H; Department of Molecular and Human Genetics, Baylor College of Medicine (BCM), Houston, Texas, USA., Guillen Sacoto MJ; GeneDx, Gaithersburg, Maryland, USA., Craigen W; Department of Molecular and Human Genetics, Baylor College of Medicine (BCM), Houston, Texas, USA., Glaser K; Joe DiMaggio Children's Hospital, Hollywood, Florida, USA.; Invitae, San Francisco, California, USA., Murdock DR; Department of Molecular and Human Genetics, Baylor College of Medicine (BCM), Houston, Texas, USA.; The University of Texas Health Science Center at Houston, Houston, Texas, USA., Rohena L; Department of Pediatrics, Division of Medical Genetics, San Antonio Military Medical Center, San Antonio, Texas, USA.; Department of Pediatrics, Long School of Medicine, The University of Texas Health Science Center at San Antonio, San Antonio, Texas, USA., Diderich KEM; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, the Netherlands., Bruggenwirth HT; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, the Netherlands., Lee B; Department of Molecular and Human Genetics, Baylor College of Medicine (BCM), Houston, Texas, USA., Bacino C; Department of Molecular and Human Genetics, Baylor College of Medicine (BCM), Houston, Texas, USA., Burrage LC; Department of Molecular and Human Genetics, Baylor College of Medicine (BCM), Houston, Texas, USA.; Texas Children's Hospital, Houston, Texas, USA., Rosenfeld JA; Department of Molecular and Human Genetics, Baylor College of Medicine (BCM), Houston, Texas, USA. |
| مؤلفون مشاركون: | Undiagnosed Diseases Network |
| المصدر: | American journal of medical genetics. Part A [Am J Med Genet A] 2024 Jan; Vol. 194 (1), pp. 17-30. Date of Electronic Publication: 2023 Sep 25. |
| نوع المنشور: | Journal Article; Research Support, N.I.H., Extramural |
| اللغة: | English |
| بيانات الدورية: | Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE |
| أسماء مطبوعة: | Publication: Hoboken, N.J. : Wiley-Blackwell Original Publication: Hoboken, N.J. : Wiley-Liss, c2003- |
| مواضيع طبية MeSH: | Autism Spectrum Disorder* , Neurodevelopmental Disorders*/genetics , Intellectual Disability*/genetics , Movement Disorders*, Child ; Humans ; Developmental Disabilities/genetics ; Muscle Hypotonia/genetics ; Seizures/genetics ; Phenotype ; Gait |
| مستخلص: | The collection of known genetic etiologies of neurodevelopmental disorders continues to increase, including several syndromes associated with defects in zinc finger protein transcription factors (ZNFs) that vary in clinical severity from mild learning disabilities and developmental delay to refractory seizures and severe autism spectrum disorder. Here we describe a new neurodevelopmental disorder associated with variants in ZBTB47 (also known as ZNF651), which encodes zinc finger and BTB domain-containing protein 47. Exome sequencing (ES) was performed for five unrelated patients with neurodevelopmental disorders. All five patients are heterozygous for a de novo missense variant in ZBTB47, with p.(Glu680Gly) (c.2039A>G) detected in one patient and p.(Glu477Lys) (c.1429G>A) identified in the other four patients. Both variants impact conserved amino acid residues. Bioinformatic analysis of each variant is consistent with pathogenicity. We present five unrelated patients with de novo missense variants in ZBTB47 and a phenotype characterized by developmental delay with intellectual disability, seizures, hypotonia, gait abnormalities, and variable movement abnormalities. We propose that these variants in ZBTB47 are the basis of a new neurodevelopmental disorder. (© 2023 Wiley Periodicals LLC.) |
| التعليقات: | Erratum in: Am J Med Genet A. 2024 Jun;194(6):e63558. doi: 10.1002/ajmg.a.63558. (PMID: 38327012) |
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| معلومات مُعتمدة: | P50 HD103555 United States HD NICHD NIH HHS; U01 HG007709 United States HG NHGRI NIH HHS; United States CA NCI NIH HHS; U01HG007709 United States NH NIH HHS |
| فهرسة مساهمة: | Investigator: MT Acosta; M Adam; DR Adams; RL Alvarez; J Alvey; L Amendola; A Andrews; EA Ashley; CA Bacino; G Bademci; A Balasubramanyam; D Baldridge; J Bale; M Bamshad; D Barbouth; P Bayrak-Toydemir; A Beck; AH Beggs; E Behrens; G Bejerano; HJ Bellen; J Bennett; B Berg-Rood; JA Bernstein; GT Berry; A Bican; S Bivona; E Blue; J Bohnsack; D Bonner; L Botto; B Boyd; LC Briere; G Brown; EA Burke; LC Burrage; MJ Butte; P Byers; WE Byrd; J Carey; O Carrasquillo; T Cassini; TCP Chang; S Chanprasert; HT Chao; I Chinn; GD Clark; TR Coakley; LA Cobban; JD Cogan; M Coggins; FS Cole; HA Colley; H Cope; R Corona; WJ Craigen; AB Crouse; M Cunningham; P D'Souza; H Dai; S Dasari; J Davis; JG Dayal; EC Dell'Angelica; P Dickson; K Dipple; D Doherty; N Dorrani; AL Doss; ED Douine; D Earl; DJ Eckstein; LT Emrick; CM Eng; M Falk; EL Fieg; PG Fisher; BL Fogel; I Forghani; WA Gahl; I Glass; B Gochuico; PC Goddard; RA Godfrey; K Golden-Grant; A Grajewski; D Hadley; S Hahn; MC Halley; R Hamid; K Hassey; N Hayes; F High; A Hing; FM Hisama; IA Holm; J Hom; M Horike-Pyne; A Huang; S Hutchison; W Introne; R Isasi; K Izumi; F Jamal; GP Jarvik; J Jarvik; S Jayadev; O Jean-Marie; V Jobanputra; L Karaviti; S Ketkar; D Kiley; G Kilich; SN Kobren; IS Kohane; JN Kohler; S Korrick; M Kozuira; D Krakow; DM Krasnewich; E Kravets; SR Lalani; B Lam; C Lam; BC Lanpher; IR Lanza; K LeBlanc; BH Lee; R Levitt; RA Lewis; P Liu; XZ Liu; N Longo; SK Loo; J Loscalzo; RL Maas; EF Macnamara; CA MacRae; VV Maduro; AS Maghiro; R Mahoney; MCV Malicdan; LA Mamounas; TA Manolio; R Mao; K Maravilla; R Marom; G Marth; BA Martin; MG Martin; JA Martínez-Agosto; S Marwaha; J McCauley; A McConkie-Rosell; AT McCray; E McGee; H Mefford; JL Merritt; M Might; G Mirzaa; E Morava; P Moretti; J Mulvihill; M Nakano-Okuno; SF Nelson; JH Newman; SK Nicholas; D Nickerson; S Nieves-Rodriguez; D Novacic; D Oglesbee; JP Orengo; L Pace; S Pak; JC Pallais; CGS Palmer; JC Papp; NH Parker; JA Phillips; JE Posey; L Potocki; BN Pusey Swerdzewski; A Quinlan; DA Rao; A Raper; W Raskind; G Renteria; CM Reuter; L Rives; AK Robertson; LH Rodan; JA Rosenfeld; N Rosenwasser; F Rossignol; M Ruzhnikov; R Sacco; JB Sampson; M Saporta; J Schaechter; T Schedl; K Schoch; DA Scott; CR Scott; E Seto; V Shashi; J Shin; EK Silverman; JS Sinsheimer; K Sisco; EC Smith; KS Smith; L Solnica-Krezel; B Solomon; RC Spillmann; JM Stoler; K Sullivan; JA Sullivan; A Sun; S Sutton; DA Sweetser; V Sybert; HK Tabor; QK Tan; ALM Tan; A Tarakad; M Tekin; F Telischi; W Thorson; CJ Tifft; C Toro; AA Tran; RA Ungar; TK Urv; A Vanderver; M Velinder; D Viskochil; TP Vogel; CE Wahl; M Walker; S Wallace; NM Walley; J Wambach; J Wan; LK Wang; MF Wangler; PA Ward; D Wegner; MW Hubshman; M Wener; T Wenger; M Westerfield; MT Wheeler; J Whitlock; LA Wolfe; K Worley; C Xiao; S Yamamoto; J Yang; Z Zhang; S Zuchner Keywords: ZBTB47; ZNF651; developmental delay; neurodevelopmental; seizure; zinc finger |
| تواريخ الأحداث: | Date Created: 20230925 Date Completed: 20231220 Latest Revision: 20240809 |
| رمز التحديث: | 20240812 |
| مُعرف محوري في PubMed: | PMC11221546 |
| DOI: | 10.1002/ajmg.a.63399 |
| PMID: | 37743782 |
| قاعدة البيانات: | MEDLINE |
| تدمد: | 1552-4833 |
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| DOI: | 10.1002/ajmg.a.63399 |