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Article

Bi-allelic null variant in matrix metalloproteinase-15, causes congenital cardiac defect, cholestasis jaundice, and failure to thrive.

Clinical genetics - 1 Apr 2022

Abdelrahman Hanadi A, Akawi Nadia, Al-Shamsi Aisha M, Ali Amanat, Al-Jasmi Fatma, John Anne, Hertecant Jozef, Al-Gazali Lihadh, Ali Bassam R

Abstract excerpt

Here, we delineate the phenotype of two siblings with a bi-allelic frameshift variant in MMP15 gene with congenital cardiac defects, cholestasis, and dysmorphism. Genome sequencing analysis revealed a recently reported homozygous frameshift variant (c.1058delC, p.Pro353Glnfs*102) in MMP15 gene that co-segregates with the phenotype in the family in a recessive mode of inheritance. Relative quantification of MMP15...

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Identifiers

PMID: 34988996
DOI: 10.1111/cge.14107

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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