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Article

Expanding the clinical spectrum of B4GALT7 deficiency: homozygous p.R270C mutation with founder effect causes Larsen of Reunion Island syndrome.

European journal of human genetics : EJHG - 1 Jan 2015

Cartault François, Munier Patrick, Jacquemont Marie-Line, Vellayoudom Jeannine, Doray Bérénice, Payet Christine, Randrianaivo Hanitra, Laville Jean-Marc, Munnich Arnold, Cormier-Daire Valérie

Abstract excerpt

First described as a variant of Larsen syndrome in Reunion Island (LRS) in the southern Indian Ocean, 'Larsen of Reunion Island syndrome' is characterized by dwarfism, hyperlaxity, multiple dislocations and distinctive facial features. It overlaps with Desbuquois dysplasia, Larsen syndrome and spondyloepiphyseal dysplasia with dislocations ascribed to CANT1, FLNB and CHST3 mutations, respectively. We collected...

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Source

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Identifiers

PMID: 24755949
DOI: 10.1038/ejhg.2014.60
PMCID: PMC4266744

Genes

CANT1
CHST3
FLNB

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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