A recurrent 8 bp frameshifting indel in FOXF1 defines a novel mutation hotspot associated with alveolar capillary dysplasia with misalignment of pulmonary veins-Reference-Cited by-同舟云学术

A recurrent 8 bp frameshifting indel in FOXF1 defines a novel mutation hotspot associated with alveolar capillary dysplasia with misalignment of pulmonary veins

Published:2019-08-22 Issue:11 Volume:179 Page:2272-2276
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Karolak Justyna A.¹²,Bacolla Albino³⁴,Liu Qian¹,Lantz Patrick E.⁵,Petty John⁶,Trapane Pamela⁷,Panzer Karin⁸,Totapally Balagangadhar R.⁹,Niu Zhiyv¹,Xiao Rui¹⁰,Xie Nina G.¹¹,Wu Lucia R.¹¹,Szafranski Przemyslaw¹,Zhang David Y.¹¹,Stankiewicz Paweł¹^ORCID

Affiliation:

1. Department of Molecular & Human GeneticsBaylor College of Medicine Houston Texas

2. Department of Genetics and Pharmaceutical MicrobiologyPoznan University of Medical Sciences Poznan Poland

3. Department of Cancer BiologyThe University of Texas M.D. Anderson Cancer Center Houston Texas

4. Department of Molecular and Cellular OncologyThe University of Texas M.D. Anderson Cancer Center Houston Texas

5. Department of PathologyWake Forest School of Medicine, Baptist Medical Center Winston‐Salem North Carolina

6. Department of General SurgeryWake Forest School of Medicine, Baptist Medical Center Winston‐Salem North Carolina

7. Department of Pediatrics, Division of Pediatric GeneticsUniversity of Florida College of Medicine‐Jacksonville Jacksonville Florida

8. Department of PediatricsUniversity of Iowa Stead Family Children's Hospital Iowa City Iowa

9. Department of PediatricsFlorida International University, Nicklaus Children's Hospital Miami Florida

10. Baylor Genetics Houston Texas

11. Department of BioengineeringRice University Houston Texas

Funder

National Institutes of Health

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.61338

Reference25 articles.

1. Two patients with FOXF1 mutations with alveolar capillary dysplasia with misalignment of pulmonary veins and other malformations: Two different presentations and outcomes

2. Microdeletions and microinsertions causing human genetic disease: common mechanisms of mutagenesis and the role of local DNA sequence complexity

3. Alveolar Capillary Dysplasia

4. Identifying Genes Whose Mutant Transcripts Cause Dominant Disease Traits by Potential Gain-of-Function Alleles

5. On the sequence-directed nature of human gene mutation: The role of genomic architecture and the local DNA sequence environment in mediating gene mutations underlying human inherited disease

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