A maternally inherited 8.05 Mb Xq21 deletion associated with Choroideremia, deafness, and mental retardation syndrome in a male patient.

Abstract:

BACKGROUND:Deletions in Xq21 cause various congenital defects in males including choroideremia, deafness and mental retardation, depending on their size and gene content. Until now only a limited number of patients with Xq21 deletions has been reported. CASE PRESENTATION:Here we describe a 17-year-old male with choroideremia, deafness, and mental retardation syndrome. Using SNP arrays, an 8.05 Mb deletion in Xq21 was identified inherited from the apparently healthy mother. The deleted region harbors 12 OMIM genes, of which POU3F4, CHM, and ZNF711 might have contributed to the patient's phenotype including hearing loss, poor vision, and intellectual disability. Moreover, the patient's mother exhibits a normal phenotype while carrying the same deletion, which is often observed in previous studies on female carriers in families with this syndrome. CONCLUSIONS:Our study confirms the causative effect between the Xq21 deletion in males and choroideremia, deafness and mental retardation.

journal_name

Mol Cytogenet

journal_title

Molecular cytogenetics

authors

Liang S,Jiang N,Li S,Jiang X,Yu D

doi

10.1186/s13039-017-0324-6

subject

Has Abstract

pub_date

2017-06-14 00:00:00

pages

23

issn

1755-8166

pii

324

journal_volume

10

pub_type

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