Novel <scp>MBTPS1</scp> Variants and Cutis Laxa Phenotype in the 8th Reported Case of Spondyloepiphyseal Dysplasia, Kondo‐Fu Type

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 geroderma osteodysplasica. Whole exome sequencing identified compound heterozygosity for a predicted splicing variant and a complete gene deletion in the patient. Functional validation using RNA splicing assays confirmed aberrant splicing, establishing the molecular diagnosis of SEDKF. This case broadens the clinical and molecular spectrum of MBTPS1-related disorders by presenting a novel combination of variants and phenotypic features.

Authors

Institutions

Publication Details

Journal
Clinical Genetics
Published
2025-09-29
DOI
https://doi.org/10.1111/cge.70084
Primary Topic
Connective tissue disorders research
Type
article
Field-Weighted Citation Impact
0.00
Controls
|||
ALL TIME
JAN
FEB
MAR
APR
MAY
JUN
JUL
AUG
SEP
OCT
article

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

Karen Elise Heath, Pablo Lapunzina, Silvia Modamio‐Høybjør, Manuel Parrón et al.
Clinical Genetics
Connective tissue disorders research
article

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

Karen Elise Heath, Pablo Lapunzina, Silvia Modamio‐Høybjør, Manuel Parrón, Julián Nevado, Sonia Pajares, Antonio Leiva‐Gea, Francisca Díaz, Laura Gort, Elsa Lucas‐Castro
article en

Abstract

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 geroderma osteodysplasica. Whole exome sequencing identified compound heterozygosity for a predicted splicing variant and a complete gene deletion in the patient. Functional validation using RNA splicing assays confirmed aberrant splicing, establishing the molecular diagnosis of SEDKF. This case broadens the clinical and molecular spectrum of MBTPS1-related disorders by presenting a novel combination of variants and phenotypic features.

Clinical GeneticsVol. 109(4)
Hospital Universitario La Paz (ES), Instituto de Salud Carlos III (ES), European Nuclear Education Network (FR), Hospital La Paz Institute for Health Research (ES), Centre for Biomedical Network Research on Rare Diseases (ES), Centro de Investigación Biomédica en Red (ES), Hospital Clínic de Barcelona (ES), ERN GUARD-Heart (NL), Consorci Institut D'Investigacions Biomediques August Pi I Sunyer (ES), Instituto de Investigación Biomédica de Málaga (ES), Universidad Autónoma de Madrid (ES)
Openalex Percentile: Top 71%
Connective tissue disorders research
DOISourceOpenAlex
AI Navigator

Ask Laika to Summarize, Analyze, and Connect papers live on the map.

Summarize Papers & Methodologies

Extract key findings, datasets, and comparative methods across publications.

Benchmark Rankings & Visual Analytics

Rank top research institutions, authors, funders, topics, and journals by Field-Weighted Citation Impact (FWCI) and paper volume with instant charts.

Connect Distant Disciplines

Bridge topological clusters on the map to find hidden collaborative intersections.