Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients.

doi:10.1136/jmg-2022-108632

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Article

Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients.

Journal of medical genetics - 1 Jul 2023

Martinez-Cayuelas Elena, Blanco-Kelly Fiona, Lopez-Grondona Fermina, Swafiri Saoud Tahsin, Lopez-Rodriguez Rosario, Losada-Del Pozo Rebeca, Mahillo-Fernandez Ignacio, Moreno Beatriz, Rodrigo-Moreno Maria, Casas-Alba Didac, Lopez-Gonzalez Aitor, García-Miñaúr Sixto, Ángeles Mori Maria, Pacio-Minguez Marta, Rikeros-Orozco Emi, Santos-Simarro Fernando, Cruz-Rojo Jaime, Quesada-Espinosa Juan Francisco, Sanchez-Calvin Maria Teresa, Sanchez-Del Pozo Jaime, Bernado Fonz Raquel, Isidoro-Garcia Maria, Ruiz-Ayucar Irene, Alvarez-Mora Maria Isabel, Blanco-Lago Raquel, De Azua Begoña, Eiris Jesus, Garcia-Peñas Juan Jose, Gil-Fournier Belen, Gomez-Lado Carmen, Irazabal Nadia, Lopez-Gonzalez Vanessa, Madrigal Irene, Malaga Ignacio, Martinez-Menendez Beatriz, Ramiro-Leon Soraya, Garcia-Hoyos Maria, Prieto-Matos Pablo, Lopez-Pison Javier, Aguilera-Albesa Sergio, Alvarez Sara, Fernández-Jaén Alberto, Llano-Rivas Isabel, Gener-Querol Blanca, Ayuso Carmen, Arteche-Lopez Ana, Palomares-Bralo Maria, Cueto-González Anna, Valenzuela Irene, Martinez-Monseny Antonio, Lorda-Sanchez Isabel, Almoguera Berta

Abstract excerpt

BACKGROUND: KBG syndrome is a highly variable neurodevelopmental disorder and clinical diagnostic criteria have changed as new patients have been reported. Both loss-of-function sequence variants and large deletions (copy number variations, CNVs) involving ANKRD11 cause KBG syndrome, but no genotype-phenotype correlation has been reported. METHODS: 67 patients with KBG syndrome were assessed using a custom...

Topics

Male
Humans
Intellectual Disability

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Abnormalities, Multiple

Bone Diseases, Developmental

Tooth Abnormalities

Facies

Autism Spectrum Disorder

DNA Copy Number Variations

Repressor Proteins

Chromosome Deletion

Phenotype

Transcription Factors

Source

Open in PubMed

Identifiers

PMID: 36446582
DOI: 10.1136/jmg-2022-108632

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