Literature DB >> 30413314

Neonatal Lung Disease Associated with TBX4 Mutations.

Kristen Suhrie1, Nathan M Pajor2, Shawn K Ahlfeld1, D Brian Dawson3, Kevin R Dufendach4, Joseph A Kitzmiller5, Daniel Leino6, Rachel C Lombardo7, Teresa A Smolarek7, Pamela A Rathbun7, Jeffrey A Whitsett1, Christopher Towe2, Kathryn A Wikenheiser-Brokamp8.   

Abstract

Variable lung disease was documented in 2 infants with heterozygous TBX4 mutations; their clinical presentations, pathology, and outcomes were distinct. These findings demonstrate that TBX4 gene mutations are associated with neonatal respiratory failure and highlight the wide spectrum of clinicopathological outcomes that have implications for patient diagnosis and management.
Copyright © 2018 Elsevier Inc. All rights reserved.

Entities:  

Keywords:  ABCA3; T-box transcription factor; TBX2; TBX4; congenital alveolar dysplasia; congenital anomaly; lung development; pulmonary hypoplasia

Mesh：

Substances：

Year:  2018        PMID： 30413314      PMCID： PMC6389379          DOI： 10.1016/j.jpeds.2018.10.018

Source DB:  PubMed          Journal:  J Pediatr        ISSN： 0022-3476            Impact factor:   4.406


  20 in total

1.  Loss of Tbx4 blocks hindlimb development and affects vascularization and fusion of the allantois.

Authors:  L A Naiche; Virginia E Papaioannou
Journal:  Development       Date:  2003-06       Impact factor: 6.868

2.  Phenotypic expansion of TBX4 mutations to include acinar dysplasia of the lungs.

Authors:  Przemyslaw Szafranski; Zeynep H Coban-Akdemir; Rosemarie Rupps; Serge Grazioli; David Wensley; Shalini N Jhangiani; Edwina Popek; Anna F Lee; James R Lupski; Cornelius F Boerkoel; Paweł Stankiewicz
Journal:  Am J Med Genet A       Date:  2016-07-04       Impact factor: 2.802

3.  Ectrodactyly and Lethal Pulmonary Acinar Dysplasia Associated with Homozygous FGFR2 Mutations Identified by Exome Sequencing.

Authors:  Christopher P Barnett; Nathalie J Nataren; Manuela Klingler-Hoffmann; Quenten Schwarz; Chan-Eng Chong; Young K Lee; Damien L Bruno; Jill Lipsett; Andrew J McPhee; Andreas W Schreiber; Jinghua Feng; Christopher N Hahn; Hamish S Scott
Journal:  Hum Mutat       Date:  2016-07-11       Impact factor: 4.878

Review 4.  An official American Thoracic Society clinical practice guideline: classification, evaluation, and management of childhood interstitial lung disease in infancy.

Authors:  Geoffrey Kurland; Robin R Deterding; James S Hagood; Lisa R Young; Alan S Brody; Robert G Castile; Sharon Dell; Leland L Fan; Aaron Hamvas; Bettina C Hilman; Claire Langston; Lawrence M Nogee; Gregory J Redding
Journal:  Am J Respir Crit Care Med       Date:  2013-08-01       Impact factor: 21.405

5.  Mutations in the human TBX4 gene cause small patella syndrome.

Authors:  Ernie M H F Bongers; Pascal H G Duijf; Sylvia E M van Beersum; Jeroen Schoots; Albert Van Kampen; Andreas Burckhardt; Ben C J Hamel; Frantisek Losan; Lies H Hoefsloot; Helger G Yntema; Nine V A M Knoers; Hans van Bokhoven
Journal:  Am J Hum Genet       Date:  2004-04-21       Impact factor: 11.025

6.  Diffuse lung disease in young children: application of a novel classification scheme.

Authors:  Gail H Deutsch; Lisa R Young; Robin R Deterding; Leland L Fan; Sharon D Dell; Judy A Bean; Alan S Brody; Lawrence M Nogee; Bruce C Trapnell; Claire Langston; Eric A Albright; Frederic B Askin; Peter Baker; Pauline M Chou; Carlyne M Cool; Susan C Coventry; Ernest Cutz; Mary M Davis; Megan K Dishop; Csaba Galambos; Kathleen Patterson; William D Travis; Susan E Wert; Frances V White
Journal:  Am J Respir Crit Care Med       Date:  2007-09-20       Impact factor: 21.405

7.  Functional Characterization of ATP-Binding Cassette Transporter A3 Mutations from Infants with Respiratory Distress Syndrome.

Authors:  Jennifer A Wambach; Ping Yang; Daniel J Wegner; Hillary B Heins; Lyudmila N Kaliberova; Sergey A Kaliberov; David T Curiel; Frances V White; Aaron Hamvas; Brian P Hackett; F Sessions Cole
Journal:  Am J Respir Cell Mol Biol       Date:  2016-11       Impact factor: 6.914

8.  Exome Sequencing in Children With Pulmonary Arterial Hypertension Demonstrates Differences Compared With Adults.

Authors:  Na Zhu; Claudia Gonzaga-Jauregui; Carrie L Welch; Lijiang Ma; Hongjian Qi; Alejandra K King; Usha Krishnan; Erika B Rosenzweig; D Dunbar Ivy; Eric D Austin; Rizwan Hamid; William C Nichols; Michael W Pauciulo; Katie A Lutz; Ashley Sawle; Jeffrey G Reid; John D Overton; Aris Baras; Frederick Dewey; Yufeng Shen; Wendy K Chung
Journal:  Circ Genom Precis Med       Date:  2018-04

9.  Acinar dysplasia of the lungs: variation in the extent of involvement and clinical features.

Authors:  C W Chow; John Massie; Jessica Ng; John Mills; Melissa Baker
Journal:  Pathology       Date:  2013-01       Impact factor: 5.306

10.  TBX4 mutations (small patella syndrome) are associated with childhood-onset pulmonary arterial hypertension.

Authors:  Wilhelmina S Kerstjens-Frederikse; Ernie M H F Bongers; Marcus T R Roofthooft; Edward M Leter; J Menno Douwes; Arie Van Dijk; Anton Vonk-Noordegraaf; Krista K Dijk-Bos; Lies H Hoefsloot; Elke S Hoendermis; Johan J P Gille; Birgit Sikkema-Raddatz; Robert M W Hofstra; Rolf M F Berger
Journal:  J Med Genet       Date:  2013-04-16       Impact factor: 6.318
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  16 in total

1.  Homozygous Null TBX4 Mutations Lead to Posterior Amelia with Pelvic and Pulmonary Hypoplasia.

Authors:  Ariana Kariminejad; Emmanuelle Szenker-Ravi; Caroline Lekszas; Homa Tajsharghi; Ali-Reza Moslemi; Thomas Naert; Hong Thi Tran; Fatemeh Ahangari; Minoo Rajaei; Mojila Nasseri; Thomas Haaf; Afrooz Azad; Andrea Superti-Furga; Reza Maroofian; Siavash Ghaderi-Sohi; Hossein Najmabadi; Mohammad Reza Abbaszadegan; Kris Vleminckx; Pooneh Nikuei; Bruno Reversade
Journal:  Am J Hum Genet       Date:  2019-11-21       Impact factor: 11.025

Review 2.  Clinical, Histopathological, and Molecular Diagnostics in Lethal Lung Developmental Disorders.

Authors:  Marie Vincent; Justyna A Karolak; Gail Deutsch; Tomasz Gambin; Edwina Popek; Bertrand Isidor; Przemyslaw Szafranski; Cedric Le Caignec; Paweł Stankiewicz
Journal:  Am J Respir Crit Care Med       Date:  2019-11-01       Impact factor: 21.405

3.  Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF Pathway.

Authors:  Justyna A Karolak; Marie Vincent; Gail Deutsch; Tomasz Gambin; Benjamin Cogné; Olivier Pichon; Francesco Vetrini; Heather C Mefford; Jennifer N Dines; Katie Golden-Grant; Katrina Dipple; Amanda S Freed; Kathleen A Leppig; Megan Dishop; David Mowat; Bruce Bennetts; Andrew J Gifford; Martin A Weber; Anna F Lee; Cornelius F Boerkoel; Tina M Bartell; Catherine Ward-Melver; Thomas Besnard; Florence Petit; Iben Bache; Zeynep Tümer; Marie Denis-Musquer; Madeleine Joubert; Jelena Martinovic; Claire Bénéteau; Arnaud Molin; Dominique Carles; Gwenaelle André; Eric Bieth; Nicolas Chassaing; Louise Devisme; Lara Chalabreysse; Laurent Pasquier; Véronique Secq; Massimiliano Don; Maria Orsaria; Chantal Missirian; Jérémie Mortreux; Damien Sanlaville; Linda Pons; Sébastien Küry; Stéphane Bézieau; Jean-Michel Liet; Nicolas Joram; Tiphaine Bihouée; Daryl A Scott; Chester W Brown; Fernando Scaglia; Anne Chun-Hui Tsai; Dorothy K Grange; John A Phillips; Jean P Pfotenhauer; Shalini N Jhangiani; Claudia G Gonzaga-Jauregui; Wendy K Chung; Galen M Schauer; Mark H Lipson; Catherine L Mercer; Arie van Haeringen; Qian Liu; Edwina Popek; Zeynep H Coban Akdemir; James R Lupski; Przemyslaw Szafranski; Bertrand Isidor; Cedric Le Caignec; Paweł Stankiewicz
Journal:  Am J Hum Genet       Date:  2019-01-10       Impact factor: 11.025

4.  Heterozygous CTNNB1 and TBX4 variants in a patient with abnormal lung growth, pulmonary hypertension, microcephaly, and spasticity.

Authors:  Justyna A Karolak; Przemyslaw Szafranski; David Kilner; Chirag Patel; Bonnie Scurry; Esther Kinning; Kate Chandler; Shalini N Jhangiani; Zeynep H Coban Akdemir; James R Lupski; Edwina Popek; Paweł Stankiewicz
Journal:  Clin Genet       Date:  2019-07-22       Impact factor: 4.438

Review 5.  'There and Back Again'-Forward Genetics and Reverse Phenotyping in Pulmonary Arterial Hypertension.

Authors:  Emilia M Swietlik; Matina Prapa; Jennifer M Martin; Divya Pandya; Kathryn Auckland; Nicholas W Morrell; Stefan Gräf
Journal:  Genes (Basel)       Date:  2020-11-26       Impact factor: 4.096

6.  Exacerbation of mild lung disorders to lethal pulmonary hypoplasia by a noncoding hypomorphic SNV in a lung-specific enhancer in trans to the frameshifting TBX4 variant.

Authors:  Esra Yıldız Bölükbaşı; Justyna A Karolak; Przemyslaw Szafranski; Tomasz Gambin; Omer Murik; David A Zeevi; Gheona Altarescu; Paweł Stankiewicz
Journal:  Am J Med Genet A       Date:  2022-01-25       Impact factor: 2.802

7.  Persistence of persistent pulmonary hypertension of the newborn: A case of de novo TBX4 variant.

Authors:  Stephanie M Tsoi; Kirk Jones; Elizabeth Colglazier; Claire Parker; Hythem Nawaytou; David Teitel; Jeffrey R Fineman; Roberta L Keller
Journal:  Pulm Circ       Date:  2022-07-01       Impact factor: 2.886

8.  Single cell RNA analysis identifies cellular heterogeneity and adaptive responses of the lung at birth.

Authors:  Minzhe Guo; Yina Du; Jason J Gokey; Samriddha Ray; Sheila M Bell; Mike Adam; Parvathi Sudha; Anne Karina Perl; Hitesh Deshmukh; S Steven Potter; Jeffrey A Whitsett; Yan Xu
Journal:  Nat Commun       Date:  2019-01-03       Impact factor: 14.919

9.  A de novo 2.2 Mb recurrent 17q23.1q23.2 deletion unmasks novel putative regulatory non-coding SNVs associated with lethal lung hypoplasia and pulmonary hypertension: a case report.

Authors:  Justyna A Karolak; Tomasz Gambin; Engela M Honey; Tomas Slavik; Edwina Popek; Paweł Stankiewicz
Journal:  BMC Med Genomics       Date:  2020-03-06       Impact factor: 3.063

Review 10.  TBX4 variants and pulmonary diseases: getting out of the 'Box'.

Authors:  Meindina G Haarman; Wilhelmina S Kerstjens-Frederikse; Rolf M F Berger
Journal:  Curr Opin Pulm Med       Date:  2020-05       Impact factor: 2.868
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