Novel MBTPS1 Variants and Cutis Laxa Phenotype in the 8th Reported Case of Spondyloepiphyseal Dysplasia, Kondo-Fu Type.

doi:10.1111/cge.70084

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Article

Novel MBTPS1 Variants and Cutis Laxa Phenotype in the 8th Reported Case of Spondyloepiphyseal Dysplasia, Kondo-Fu Type.

Clinical genetics - 1 Apr 2026

Lucas-Castro Elsa, Diaz-González Francisca, Modamio-Høybjor Silvia, Parrón-Pajares Manuel, Pajares Sonia, Gort Laura, Nevado Julián, Lapunzina Pablo, Leiva-Gea Antonio, Heath Karen E

Abstract excerpt

Spondyloepiphyseal dysplasia, Kondo-Fu (SEDKF) type is a rare skeletal dysplasia caused by biallelic variants in MBTPS1. To date, only seven SEDKF cases have been reported in the literature. Here, we report the eighth, a 20-year-old male presenting with severe disproportionate short stature, spondyloepiphyseal dysplasia, and the previously unreported feature of cutis laxa, which led to the clinical suspicion of...

Topics

Humans
Male
Osteochondrodysplasias
Cutis Laxa
Phenotype
Exome Sequencing
Young Adult
Mutation

Source

Open in PubMed

Identifiers

PMID: 41024587
DOI: 10.1111/cge.70084

Genes

MBTPS1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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