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Exome Sequencing Detects Uniparental Disomy of Chromosome 4 Revealing a LARP7 Pathogenic Variant Responsible for Alazami Syndrome: A Case Report.

American journal of medical genetics. Part A - 1 Mar 2025

Buisine-Sbraggia Amélie, Thevenon Julien, Yauy Kevin, Naud Marie-Emmanuelle, Costa Jean-Marc, Dubois-Teklali Fanny, Willems Marjolaine, Dieterich Klaus, Satre Véronique, Coutton Charles, Tanno Pauline Le

Abstract excerpt

Alazami syndrome is an autosomal recessive disease characterized by global developmental delay, growth restriction, and distinctive facial features. Fewer than 50 individuals are currently reported with biallelic loss of function variants in LARP7. We report the case of a 3.5-year-old boy born from nonconsanguineous parents, presenting with syndromic global developmental delay. Exome sequencing identified a...

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Share to Child, Preschool
Share to Chromosomes, Human, Pair 4

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Polymorphism, Single Nucleotide

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Source

Identifiers

PMID: 39417555
DOI: 10.1002/ajmg.a.63891

Genes

LARP7

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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Exome Sequencing Detects Uniparental Disomy of Chromosome 4 Revealing a LARP7 Pathogenic Variant Responsible for Alazami Syndrome: A Case Report.PMID 39417555Read ↗

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