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Article

Refinement of the critical 7p22.1 deletion region: Haploinsufficiency of ACTB is the cause of the 7p22.1 microdeletion-related developmental disorders.

European journal of medical genetics - 1 May 2018

Palumbo Orazio, Accadia Maria, Palumbo Pietro, Leone Maria Pia, Scorrano Antonio, Palladino Teresa, Stallone Raffaella, Bonaglia Maria Clara, Carella Massimo

Abstract excerpt

Non-recurrent microdeletion (≤2 Mb in size) in 7p22.1 is a rarely described cytogenetic aberration, only recently reported in patients with developmental delay/intellectual disability, short stature and microcephaly. The size of the deletions ranged from 0.37 to 1.5 Mb, and reported genotype-phenotype correlations identified a minimum deleted region of 0.37 Mb involving the FBLX18, ACTB, FSCN1, RNF216 and ZNF815P...

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Source

Identifiers

PMID: 29274487
DOI: 10.1016/j.ejmg.2017.12.008

Genes

ACTB
FSCN1

Provenance

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