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...
Main Authors: | , , , , |
---|---|
Format: | Article |
Language: | English |
Published: |
BMC
2017-06-01
|
Series: | Molecular Cytogenetics |
Subjects: | |
Online Access: | http://link.springer.com/article/10.1186/s13039-017-0324-6 |
id |
doaj-ef8bc1919f464946a4e8524ffbd00ffe |
---|---|
record_format |
Article |
spelling |
doaj-ef8bc1919f464946a4e8524ffbd00ffe2020-11-24T21:51:47ZengBMCMolecular Cytogenetics1755-81662017-06-011011610.1186/s13039-017-0324-6A maternally inherited 8.05 Mb Xq21 deletion associated with Choroideremia, deafness, and mental retardation syndrome in a male patientSiying Liang0Nan Jiang1Shuo Li2Xiaohu Jiang3Dongyi Yu4Genetic Testing Center, Qingdao Women and Children’s Hospital, Qingdao UniversityGenetic Testing Center, Qingdao Women and Children’s Hospital, Qingdao UniversityGenetic Testing Center, Qingdao Women and Children’s Hospital, Qingdao UniversityQingdao Women and Children’s Hospital, Qingdao UniversityGenetic Testing Center, Qingdao Women and Children’s Hospital, Qingdao UniversityAbstract 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.http://link.springer.com/article/10.1186/s13039-017-0324-6Xq21ChoroideremiaDeafnessMental retardationSNP arrays |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Siying Liang Nan Jiang Shuo Li Xiaohu Jiang Dongyi Yu |
spellingShingle |
Siying Liang Nan Jiang Shuo Li Xiaohu Jiang Dongyi Yu A maternally inherited 8.05 Mb Xq21 deletion associated with Choroideremia, deafness, and mental retardation syndrome in a male patient Molecular Cytogenetics Xq21 Choroideremia Deafness Mental retardation SNP arrays |
author_facet |
Siying Liang Nan Jiang Shuo Li Xiaohu Jiang Dongyi Yu |
author_sort |
Siying Liang |
title |
A maternally inherited 8.05 Mb Xq21 deletion associated with Choroideremia, deafness, and mental retardation syndrome in a male patient |
title_short |
A maternally inherited 8.05 Mb Xq21 deletion associated with Choroideremia, deafness, and mental retardation syndrome in a male patient |
title_full |
A maternally inherited 8.05 Mb Xq21 deletion associated with Choroideremia, deafness, and mental retardation syndrome in a male patient |
title_fullStr |
A maternally inherited 8.05 Mb Xq21 deletion associated with Choroideremia, deafness, and mental retardation syndrome in a male patient |
title_full_unstemmed |
A maternally inherited 8.05 Mb Xq21 deletion associated with Choroideremia, deafness, and mental retardation syndrome in a male patient |
title_sort |
maternally inherited 8.05 mb xq21 deletion associated with choroideremia, deafness, and mental retardation syndrome in a male patient |
publisher |
BMC |
series |
Molecular Cytogenetics |
issn |
1755-8166 |
publishDate |
2017-06-01 |
description |
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. |
topic |
Xq21 Choroideremia Deafness Mental retardation SNP arrays |
url |
http://link.springer.com/article/10.1186/s13039-017-0324-6 |
work_keys_str_mv |
AT siyingliang amaternallyinherited805mbxq21deletionassociatedwithchoroideremiadeafnessandmentalretardationsyndromeinamalepatient AT nanjiang amaternallyinherited805mbxq21deletionassociatedwithchoroideremiadeafnessandmentalretardationsyndromeinamalepatient AT shuoli amaternallyinherited805mbxq21deletionassociatedwithchoroideremiadeafnessandmentalretardationsyndromeinamalepatient AT xiaohujiang amaternallyinherited805mbxq21deletionassociatedwithchoroideremiadeafnessandmentalretardationsyndromeinamalepatient AT dongyiyu amaternallyinherited805mbxq21deletionassociatedwithchoroideremiadeafnessandmentalretardationsyndromeinamalepatient AT siyingliang maternallyinherited805mbxq21deletionassociatedwithchoroideremiadeafnessandmentalretardationsyndromeinamalepatient AT nanjiang maternallyinherited805mbxq21deletionassociatedwithchoroideremiadeafnessandmentalretardationsyndromeinamalepatient AT shuoli maternallyinherited805mbxq21deletionassociatedwithchoroideremiadeafnessandmentalretardationsyndromeinamalepatient AT xiaohujiang maternallyinherited805mbxq21deletionassociatedwithchoroideremiadeafnessandmentalretardationsyndromeinamalepatient AT dongyiyu maternallyinherited805mbxq21deletionassociatedwithchoroideremiadeafnessandmentalretardationsyndromeinamalepatient |
_version_ |
1725878647449976832 |