A New Patient With <scp>SPOUT1</scp> ‐Related Neurodevelopmental Disorder Identified by Genomic Data Re‐Analysis: Novel Phenotypic Features and Literature Review

We report a 5-year-old Spanish male with a homozygous SPOUT1 variant (NM_016390.4:c.1058C>T; p.Thr353Met), identified by re-analysis of whole-genome sequencing. His phenotype includes severe developmental delay, microcephaly, epilepsy evolving to Lennox-Gastaut-like syndrome, growth impairment, dysmorphic features, and multiple congenital anomalies. Our case expands the SPOUT1-related neurodevelopmental spectrum and underscores the diagnostic value of periodic genomic data re-analysis.

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Publication Details

Journal
American Journal of Medical Genetics Part A
Published
2026-03-22
DOI
https://doi.org/10.1002/ajmg.a.70126
Primary Topic
Genomics and Rare Diseases
Type
article
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article

A New Patient With SPOUT1 ‐Related Neurodevelopmental Disorder Identified by Genomic Data Re‐Analysis: Novel Phenotypic Features and Literature Review

Jair Tenorio‐Castaño, Juan A. Jimenez‐Estrada, Beatriz Morte, M. Vento Torres et al.
American Journal of Medical Genetics Part A
Genomics and Rare Diseases
article

A New Patient With SPOUT1 ‐Related Neurodevelopmental Disorder Identified by Genomic Data Re‐Analysis: Novel Phenotypic Features and Literature Review

Jair Tenorio‐Castaño, Juan A. Jimenez‐Estrada, Beatriz Morte, M. Vento Torres, Enrique Galán, Ana M. Marquez, Mónica Mora‐Gómez, Manuel Rodríguez‐Canó, Valeria Vásquez‐Amell, Tomás Valle, Natalia Gallego‐Zazo, Mario Cazalla, Alejandra Damián, Lucía Miranda Alcaraz, Víctor L. Ruiz Pérez, Pablo Lapunzina, Ángel Carracedo, Pilar Méndez, Julián Nevado
article en

Abstract

We report a 5-year-old Spanish male with a homozygous SPOUT1 variant (NM_016390.4:c.1058C>T; p.Thr353Met), identified by re-analysis of whole-genome sequencing. His phenotype includes severe developmental delay, microcephaly, epilepsy evolving to Lennox-Gastaut-like syndrome, growth impairment, dysmorphic features, and multiple congenital anomalies. Our case expands the SPOUT1-related neurodevelopmental spectrum and underscores the diagnostic value of periodic genomic data re-analysis.

American Journal of Medical Genetics Part A
Universidade de Santiago de Compostela (ES), Hospital Universitario La Paz (ES), Instituto de Investigaciones Biomédicas Sols-Morreale (ES), Centre for Biomedical Network Research on Rare Diseases (ES), Unidades Centrales Científico-Técnicas (ES), Fundación Pública Galega de Medicina Xenómica (ES), Hospital Materno-Infantil (ES), ERN GUARD-Heart (NL), Universidad Autónoma de Madrid (ES), Universidad de Extremadura (ES)
Openalex Percentile: Top 12%
Genomics and Rare Diseases
DOISourceOpenAlex
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A New Patient With <scp>SPOUT1</scp> ‐Related Neurodevelopmental Disorder Identified by Genomic Data Re‐Analysis: Novel Phenotypic Features and Literature Review — Jair Tenorio‐Castaño, Juan A. Jimenez‐Estrada, et al. · American Journal of Medical Genetics Part A (2026) | TGRS Research Map | TGRS