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Deletion of the AP1S2 gene in a child with psychomotor delay and hypotonia.

Abstract：

:We identified a 495 Kb interstitial deletion of chromosome Xp22.2, centered on the AP1S2 gene, by means of oligonucleotide array comparative genomic hybridisation (array-CGH) in a child with marked hypotonia in the first months of life, psychomotor retardation, severely delayed walking and speech development, and unspecific dysmorphic facial features. The deletion was inherited from the healthy mother. Point mutations of the AP1S2 gene have been identified in patients with X-linked mental retardation (XLMR). The clinical features of our patient are quite similar to those reported in male patients carrying point mutations, thus suggesting that point mutations and deletions of the AP1S2 gene lead to a recognisable XLMR phenotype in males.

journal_name

Eur J Med Genet

journal_title

European journal of medical genetics

authors

Ballarati L,Cereda A,Caselli R,Maitz S,Russo S,Selicorni A,Larizza L,Giardino D

doi

10.1016/j.ejmg.2011.12.001

subject

Has Abstract

pub_date

2012-02-01 00:00:00

pages

124-7

issue

2

eissn

1769-7212

issn

1878-0849

pii

S1769-7212(11)00130-3

journal_volume

55

pub_type

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