NDLI: Duplication at Xq13.3-q21.1 with syndromic intellectual disability, a probable role for the ATRX gene.

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Duplication at Xq13.3-q21.1 with syndromic intellectual disability, a probable role for the ATRX gene.

Content Provider	World Health Organization (WHO)-Global Index Medicus
Author	Martínez, Francisco Roselló, Mónica Mayo, Sonia Monfort, Sandra Oltra, Silvestre Orellana, Carmen
Description	Country affiliation: Spain Author Affiliation: Martínez F ( Unidad de Genética y Diagnostico Prenatal, Hospital Universitario y Politécnico La Fe, Valencia, Spain.)
Abstract	Here we report on two unrelated male patients with syndromic intellectual disability (ID) due to duplication at Xq13.3-q21.1, a region of about 6 Mb and 25 genes. Among these, the most outstanding is ATRX, the causative gene of X-linked alpha-thalassemia/mental retardation. ATRX belongs to the growing list of genes implied in chromatin remodeling causing ID. Many these genes, such as MECP2, are dose-sensitive so that not only deletions and point mutations, but also duplications cause ID. Both patients have severe ID, absent expressive speech, early hypotonia, behavior problems (hyperactivity, repetitive self-stimulatory behavior), postnatal growth deficiency, microcephaly, micrognathia, cryptorchidism, low-set, posteriorly angulated ears, and downslanting palpebral fissures. These findings are also usually present among patients with loss-of-function mutations of the ATRX gene. Completely skewed X inactivation was observed in the only informative carrier mother, a constant finding among female carriers of inactivating point mutations of this gene. Participation of other duplicated genes cannot be excluded; nevertheless we propose that the increased dosage of ATRX is the major pathogenic mechanism of this X-linked disorder, a syndrome reminiscent of MECP2 duplication.
File Format	HTM / HTML
ISSN	15524825
Issue Number	4
Volume Number	164A
e-ISSN	15524833
Journal	American Journal of Medical Genetics Part A
Language	English
Publisher	Wiley-Blackwell
Publisher Date	2014-04-01
Publisher Place	United States
Access Restriction	One Nation One Subscription (ONOS)
Subject Keyword	Discipline Human Discipline Genetics Chromosomes, Human, X Dna Helicases Genetics Gene Duplication Intellectual Disability Mental Retardation, X-linked Nuclear Proteins Adolescent Child Female Humans Male Mutation X Chromosome Inactivation Alpha-thalassemia Case Reports Journal Article Research Support, Non-u.s. Gov't
Content Type	Text
Resource Type	Article Case study
Subject	Genetics Genetics (clinical)

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