Expanding the Molecular Spectrum of ANKRD11 Gene Defects in 33 Patients with a Clinical Presentation of KBG Syndrome.

doi:10.3390/ijms23115912

Article

Expanding the Molecular Spectrum of ANKRD11 Gene Defects in 33 Patients with a Clinical Presentation of KBG Syndrome.

International journal of molecular sciences - 25 May 2022

Bestetti Ilaria, Crippa Milena, Sironi Alessandra, Tumiatti Francesca, Masciadri Maura, Smeland Marie Falkenberg, Naik Swati, Murch Oliver, Bonati Maria Teresa, Spano Alice, Cattaneo Elisa, Mariani Milena, Gotta Fabio, Crosti Francesca, Cavalli Pietro, Pantaleoni Chiara, Natacci Federica, Bedeschi Maria Francesca, Milani Donatella, Maitz Silvia, Selicorni Angelo, Spaccini Luigina, Peron Angela, Russo Silvia, Larizza Lidia, Low Karen, Finelli Palma

Abstract excerpt

KBG syndrome (KBGS) is a neurodevelopmental disorder caused by the Ankyrin Repeat Domain 11 (ANKRD11) haploinsufficiency. Here, we report the molecular investigations performed on a cohort of 33 individuals with KBGS clinical suspicion. By using a multi-testing genomic approach, including gene sequencing, Chromosome Microarray Analysis (CMA), and RT-qPCR gene expression assay, we searched for pathogenic...

Topics

Abnormalities, Multiple
Bone Diseases, Developmental
Chromosome Deletion
Facies
Humans
Intellectual Disability
Phenotype
Repressor Proteins

Expanding the Molecular Spectrum of ANKRD11 Gene Defects in 33 Patients with a Clinical Presentation of KBG Syndrome.

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