File Download
There are no files associated with this item.
Links for fulltext
(May Require Subscription)
- Scopus: eid_2-s2.0-0031943539
- PMID: 9630071
- WOS: WOS:000073446200005
- Find via
Supplementary
- Citations:
- Appears in Collections:
Article: DNA diagnosis of FRAXA and FRAXE in Chinese children with neurodevelopmental disorders and fragile X syndrome
Title | DNA diagnosis of FRAXA and FRAXE in Chinese children with neurodevelopmental disorders and fragile X syndrome |
---|---|
Authors | |
Keywords | Fragile X FRAXA FRAXE |
Issue Date | 1998 |
Publisher | Blackwell Munksgaard. The Journal's web site is located at http://www.blackwellpublishing.com/journals/CGE |
Citation | Clinical Genetics, 1998, v. 53 n. 3, p. 179-183 How to Cite? |
Abstract | Fragile X (FraX) syndrome is the most common cause of inherited mental retardation. To see whether FRAXA or FRAXE can account for the etiology of some unexplained neurodevelopmental disorders in children, we screened for trinucleotide repeat expansion in a consecutive cohort of 73 Chinese children and their mothers seen in 1995 (group 1) referred for developmental assessment due to developmental delay, language delay, attention deficit hyperactivity disorder, autistic spectrum disorder, mental retardation and/or learning disability. We also screened DNA samples of all five previously diagnosed cytogenetically-positive FraX boys, their mothers and sisters (group 2). A control group of unrelated teenagers and adults were recruited from the community (group 3). In group 1, 3 families (2 mothers and a mother and her son) were found to carry a small premutation allele at FRAXA (premutation frequency = 2%, 3/153 independent X chromosomes), but none had any expansion at FRAXE. In group 2, all 5 FraX boys had full mutation at FRAXA and normal repeat length at FRAXE. In group 3, 1 male has a premutation allele out of 18 males and 59 females tested (premutation frequency of control = 0.7%, 1 out of 136 X chromosomes). For FRAXE screening in group 3, 2 females were carriers (1.5%, 2 out of 136 X chromosomes). Thus, FRAXA and FRAXE cannot account for the etiology of neurodevelopmental disorders in our cohort of Chinese children, and the prevalence of FRAXE mutation in normal Chinese population appears to be higher than reported in the Caucasians. |
Persistent Identifier | http://hdl.handle.net/10722/80067 |
ISSN | 2023 Impact Factor: 2.9 2023 SCImago Journal Rankings: 1.236 |
ISI Accession Number ID | |
References |
DC Field | Value | Language |
---|---|---|
dc.contributor.author | Chan, SY | en_HK |
dc.contributor.author | Wong, V | en_HK |
dc.date.accessioned | 2010-09-06T08:02:00Z | - |
dc.date.available | 2010-09-06T08:02:00Z | - |
dc.date.issued | 1998 | en_HK |
dc.identifier.citation | Clinical Genetics, 1998, v. 53 n. 3, p. 179-183 | en_HK |
dc.identifier.issn | 0009-9163 | en_HK |
dc.identifier.uri | http://hdl.handle.net/10722/80067 | - |
dc.description.abstract | Fragile X (FraX) syndrome is the most common cause of inherited mental retardation. To see whether FRAXA or FRAXE can account for the etiology of some unexplained neurodevelopmental disorders in children, we screened for trinucleotide repeat expansion in a consecutive cohort of 73 Chinese children and their mothers seen in 1995 (group 1) referred for developmental assessment due to developmental delay, language delay, attention deficit hyperactivity disorder, autistic spectrum disorder, mental retardation and/or learning disability. We also screened DNA samples of all five previously diagnosed cytogenetically-positive FraX boys, their mothers and sisters (group 2). A control group of unrelated teenagers and adults were recruited from the community (group 3). In group 1, 3 families (2 mothers and a mother and her son) were found to carry a small premutation allele at FRAXA (premutation frequency = 2%, 3/153 independent X chromosomes), but none had any expansion at FRAXE. In group 2, all 5 FraX boys had full mutation at FRAXA and normal repeat length at FRAXE. In group 3, 1 male has a premutation allele out of 18 males and 59 females tested (premutation frequency of control = 0.7%, 1 out of 136 X chromosomes). For FRAXE screening in group 3, 2 females were carriers (1.5%, 2 out of 136 X chromosomes). Thus, FRAXA and FRAXE cannot account for the etiology of neurodevelopmental disorders in our cohort of Chinese children, and the prevalence of FRAXE mutation in normal Chinese population appears to be higher than reported in the Caucasians. | en_HK |
dc.language | eng | en_HK |
dc.publisher | Blackwell Munksgaard. The Journal's web site is located at http://www.blackwellpublishing.com/journals/CGE | en_HK |
dc.relation.ispartof | Clinical Genetics | en_HK |
dc.subject | Fragile X | en_HK |
dc.subject | FRAXA | en_HK |
dc.subject | FRAXE | en_HK |
dc.title | DNA diagnosis of FRAXA and FRAXE in Chinese children with neurodevelopmental disorders and fragile X syndrome | en_HK |
dc.type | Article | en_HK |
dc.identifier.email | Chan, SY:sychan@hkucc.hku.hk | en_HK |
dc.identifier.email | Wong, V:vcnwong@hku.hk | en_HK |
dc.identifier.authority | Chan, SY=rp00356 | en_HK |
dc.identifier.authority | Wong, V=rp00334 | en_HK |
dc.description.nature | link_to_subscribed_fulltext | - |
dc.identifier.pmid | 9630071 | - |
dc.identifier.scopus | eid_2-s2.0-0031943539 | en_HK |
dc.identifier.hkuros | 31604 | en_HK |
dc.relation.references | http://www.scopus.com/mlt/select.url?eid=2-s2.0-0031943539&selection=ref&src=s&origin=recordpage | en_HK |
dc.identifier.volume | 53 | en_HK |
dc.identifier.issue | 3 | en_HK |
dc.identifier.spage | 179 | en_HK |
dc.identifier.epage | 183 | en_HK |
dc.identifier.isi | WOS:000073446200005 | - |
dc.publisher.place | Denmark | en_HK |
dc.identifier.scopusauthorid | Chan, SY=7404255082 | en_HK |
dc.identifier.scopusauthorid | Wong, V=7202525632 | en_HK |
dc.identifier.issnl | 0009-9163 | - |