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A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
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Long-read sequencing reveals SVA insertion in AP3B1 causing Hermansky-Pudlak syndrome 2

Naomi Baba1, Ahmed Elashy1,2,3, Oliver Wegehaupt4,5

  • 1Department of Pediatric Oncology, Hematology and Clinical Immunology, Medical Faculty, Heinrich-Heine-University, University Hospital Düsseldorf, Düsseldorf, Germany.

Pediatric Allergy and Immunology : Official Publication of the European Society of Pediatric Allergy and Immunology
|July 11, 2026
PubMed
Abstract

No abstract available in PubMed .

Keywords:
AP3B1Hermansky–Pudlak syndrome type 2inborn errors of immunitylong‐read sequencinglysosomal trafficking disordersretrotransposon insertion

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Alternative RNA Splicing02:18

Alternative RNA Splicing

Alternative RNA splicing is the regulated splicing of exons and introns to produce different mature mRNAs from a single pre-mRNA. Unlike in constitutive splicing where a single gene produces a single type of mRNA, alternative splicing allows an organism to produce multiple proteins from a single gene and plays an important role in protein diversity.
There are five types of alternative RNA splicing that vary in the ways the pre-mRNA segments are removed or retained in the mature mRNA. The first...