<i>PRUNE1</i> c. <scp>933G</scp> >A synonymous variant induces exon 7 skipping, disrupts the <scp>DHHA2</scp> domain, and leads to an atypical <scp>NMIHBA</scp> syndrome presentation: Case report and review of the literature-Reference-Cited by-同舟云学术

PRUNE1 c. 933G >A synonymous variant induces exon 7 skipping, disrupts the DHHA2 domain, and leads to an atypical NMIHBA syndrome presentation: Case report and review of the literature

Published:2022-02-23 Issue:6 Volume:188 Page:1868-1874
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:American J of Med Genetics Pt A

Author:

Magyar Christina L.¹²³⁴^ORCID,Murdock David R.⁵,Burrage Lindsay C.⁵^ORCID,Dai Hongzheng⁵,Lalani Seema R.⁵^ORCID,Lewis Richard A.⁵⁶,Lin Yuezhen⁷,Astudillo Marcela F.⁷,Rosenfeld Jill A.⁵,Tran Alyssa A.⁵,Gibson James B.⁸,Bacino Carlos A.⁵,Lee Brendan H.⁵,Chao Hsiao‐Tuan³⁴⁵⁹¹⁰^ORCID,

Affiliation:

1. Graduate Program in Genetics and Genomics Medical Scientist Training Program Houston Texas USA

2. Medical Scientist Training Program Baylor College of Medicine Houston Texas USA

3. Jan and Dan Duncan Neurological Research Institute Houston Texas USA

4. McNair Medical Institute The Robert and Janice McNair Foundation Houston Texas USA

5. Department of Molecular and Human Genetics Baylor College of Medicine Houston Texas USA

6. Department of Ophthalmology Baylor College of Medicine Houston Texas USA

7. Department of Pediatrics, Section of Diabetes and Endocrinology Texas Children's Hospital, Baylor College of Medicine Houston Texas USA

8. Section of Metabolic Genetics Dell Children's Medical Group Austin Texas USA

9. Department of Pediatrics Section of Neurology and Developmental Neuroscience, Baylor College of Medicine Houston Texas USA

10. Department of Neuroscience Baylor College of Medicine Houston Texas USA

Funder

Burroughs Wellcome Fund

Child Neurology Foundation

National Institutes of Health

Robert and Janice McNair Foundation

Texas Children's Hospital

Baylor College of Medicine

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.62704

Reference31 articles.

1. PRUNE Syndrome Is a New Neurodevelopmental Disorder

2. PRUNE1 Deficiency: Expanding the Clinical and Genetic Spectrum

3. A novel family of predicted phosphoesterases includes Drosophila prune protein and bacterial recJ exonuclease

4. PRUNE and NM23-M1 expression in embryonic and adult mouse brain

5. Homozygous mutation in PRUNE1 in an Oji-Cree male with a complex neurological phenotype

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