Chromosome 22q13 terminal deletion size is associated with relevant clinical features in a sample of 63 Italian patients with Phelan-McDermid syndrome.

doi:10.1186/s11689-026-09708-x

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Article

Chromosome 22q13 terminal deletion size is associated with relevant clinical features in a sample of 63 Italian patients with Phelan-McDermid syndrome.

Journal of neurodevelopmental disorders - 26 May 2026

Sandoni Laura, Chehbani Fethia, Asta Lisa, Camia Michela, Ricciardello Arianna, Tomaiuolo Pasquale, Cucinotta Francesca, Turriziani Laura, Boncoddo Maria, Bellomo Fabiana, Baccarin Marco, Picinelli Chiara, Castronovo Paola, Sacco Roberto, Lintas Carla, Piras Ignazio Stefano, Pelagatti Francesco, Banchelli Federico, Costantini Riccardo Cuoghi, D'Amico Roberto, Persico Antonio M

Abstract excerpt

BACKGROUND: Phelan-McDermid syndrome (PMS) is caused in the majority of cases by the loss or mutation of one allele of the SHANK3 gene, located in human chr 22q13.33. PMS displays large interindividual differences in clinical severity and longitudinal trajectory. Other genes located in this chromosomal region are known to contribute to the clinical phenotype (CELSR1, TCF20) in patients with larger deletions. The...

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Topics

Humans
Chromosomes, Human, Pair 22
Chromosome Disorders

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Chromosome Deletion

Female

Phenotype

Male

Child

Adolescent

Italy

Child, Preschool

Genetic Association Studies

Adult

Young Adult

Nerve Tissue Proteins

Source

Open in PubMed Open full text

Identifiers

PMID: 42192297
DOI: 10.1186/s11689-026-09708-x
PMCID: PMC13584495

Genes

ATXN10
BRD1
CELSR1
FBLN1
PLXNB2
TAFA5
TBC1D22A
TCF20

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 24 Oct 2026.

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Chromosome 22q13 terminal deletion size is associated with relevant clinical features in a sample of 63 Italian patients with Phelan-McDermid syndrome.PMID 42192297Read ↗

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