SERPINA11 related novel serpinopathy - A perinatal lethal disorder.

doi:10.1111/cge.14564

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Article

SERPINA11 related novel serpinopathy - A perinatal lethal disorder.

Clinical genetics - 1 Sept 2024

Aggarwal Shagun, Vineeth Venugopal Satidevi, Padwal Shrutika S, Bhat Sameer Ahmed, Singh Arpita, Kulkarni Aditya, Patil Mallikarjun, Tallapaka Karthik, Pasumarthi Divya, Venkatapuram Vijayasree, Thotakura Pragna Lakshmi, Dalal Ashwin, Bhandari Rashna

Abstract excerpt

SERPINA11 is a hitherto poorly characterised gene belonging to Clade A of the SERPIN superfamily, with unknown expression pattern and functional significance. We report a perinatal lethal phenotype in two foetuses from the same family associated with a biallelic loss of function variant in SERPINA11, and provide functional evidence to support its candidature as a Mendelian disorder. The SERPINA11...

Topics

Animals
Female
Humans
Male
Mice
Pregnancy
Fetus
HEK293 Cells
Pedigree
Phenotype
Serpins
Genes, Lethal

Source

Open in PubMed

Identifiers

PMID: 38831697
DOI: 10.1111/cge.14564

Genes

SERPINA11

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026.

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