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Conference Paper: The genetics of macrocephaly, autistic spectrum disorders and developmental delay in Chinese children

TitleThe genetics of macrocephaly, autistic spectrum disorders and developmental delay in Chinese children
Authors
Issue Date2017
PublisherWiley-Blackwell Publishing Ltd. The Journal's web site is located at http://onlinelibrary.wiley.com/journal/10.1111/(ISSN)1469-8749
Citation
British Paediatric Neurology Association Annual Meeting, Cambridge, UK., 11-13 January 2017. In Developmental Medicine & Child Neurology, v. 59 n. suppl. 1, p. 69, abstract no. 134 How to Cite?
AbstractObjective: Macrocephaly is a common dysmorphic feature in children with autistic spectrum disorders and developmental problems. Previous studies showed that 14–34% of autistic children had head circumference >97 percentile. The aim of this study was to investigate the genetic causes of children with macrocephaly, autistic spectrum disorders and/ or global developmental delay. Method: Chinese children diagnosed with macrocephaly with head circumference >2 S.D. with either autistic spectrum disorders and/ or global developmental delay were recruited prospectively from 1st January 2010 to 31st December 2014. After obtaining informed consent, whole exome sequencing was done on the patients’ blood and buccal DNA. There were total of 18 patients and 27 family members. Coding exons in DNA samples from the patients and the family members were captured by Illumina Truseq Exome Enrichment Kit (64mb) and sequenced by Illumina Hiseq 2000 machine. The whole sequencing data analysis follows the best practice of GATK 3.2 (The Genome Analysis Toolkit, Broad Institute). Results: Out of the 18 patients with macrocephaly, autistic spectrum and/ or global developmental delay, 5 patients (27%) were identified to have genetic mutations (3 de novo mutations, 1 autosomal dominant and 1 was X-linked inherited). 4 out of the 5 mutations were linked to the PI3KAKT- mTOR pathway. Interestingly, one of these patients with biallelic PTEN mutations had the most severe clinical features of macrocephaly, global developmental delay and early death. Conclusion: Children with macrocephaly, autistic spectrum disorders and/ or global developmental delay should be offered genetic evaluations to rule out megalencephaly syndromes related to the PI3K-AKT-mTOR pathway. Early recognition will help to identify and treat complications such as increased cancer risks and early lethality.
DescriptionPoster Presentations
Persistent Identifierhttp://hdl.handle.net/10722/241793
ISSN
2015 Impact Factor: 3.615
2015 SCImago Journal Rankings: 1.636

 

DC FieldValueLanguage
dc.contributor.authorTso, WYW-
dc.contributor.authorYEUNG, KS-
dc.contributor.authorIp, JKJ-
dc.contributor.authorLiu, APY-
dc.contributor.authorLee, PPW-
dc.contributor.authorChu, WY-
dc.contributor.authorChong, CY-
dc.contributor.authorHo, MHK-
dc.contributor.authorChan, GCF-
dc.contributor.authorLau, YL-
dc.contributor.authorChung, BHY-
dc.date.accessioned2017-06-20T01:48:38Z-
dc.date.available2017-06-20T01:48:38Z-
dc.date.issued2017-
dc.identifier.citationBritish Paediatric Neurology Association Annual Meeting, Cambridge, UK., 11-13 January 2017. In Developmental Medicine & Child Neurology, v. 59 n. suppl. 1, p. 69, abstract no. 134-
dc.identifier.issn0012-1622-
dc.identifier.urihttp://hdl.handle.net/10722/241793-
dc.descriptionPoster Presentations-
dc.description.abstractObjective: Macrocephaly is a common dysmorphic feature in children with autistic spectrum disorders and developmental problems. Previous studies showed that 14–34% of autistic children had head circumference >97 percentile. The aim of this study was to investigate the genetic causes of children with macrocephaly, autistic spectrum disorders and/ or global developmental delay. Method: Chinese children diagnosed with macrocephaly with head circumference >2 S.D. with either autistic spectrum disorders and/ or global developmental delay were recruited prospectively from 1st January 2010 to 31st December 2014. After obtaining informed consent, whole exome sequencing was done on the patients’ blood and buccal DNA. There were total of 18 patients and 27 family members. Coding exons in DNA samples from the patients and the family members were captured by Illumina Truseq Exome Enrichment Kit (64mb) and sequenced by Illumina Hiseq 2000 machine. The whole sequencing data analysis follows the best practice of GATK 3.2 (The Genome Analysis Toolkit, Broad Institute). Results: Out of the 18 patients with macrocephaly, autistic spectrum and/ or global developmental delay, 5 patients (27%) were identified to have genetic mutations (3 de novo mutations, 1 autosomal dominant and 1 was X-linked inherited). 4 out of the 5 mutations were linked to the PI3KAKT- mTOR pathway. Interestingly, one of these patients with biallelic PTEN mutations had the most severe clinical features of macrocephaly, global developmental delay and early death. Conclusion: Children with macrocephaly, autistic spectrum disorders and/ or global developmental delay should be offered genetic evaluations to rule out megalencephaly syndromes related to the PI3K-AKT-mTOR pathway. Early recognition will help to identify and treat complications such as increased cancer risks and early lethality.-
dc.languageeng-
dc.publisherWiley-Blackwell Publishing Ltd. The Journal's web site is located at http://onlinelibrary.wiley.com/journal/10.1111/(ISSN)1469-8749-
dc.relation.ispartofDevelopmental Medicine and Child Neurology-
dc.rightsPreprint This is the pre-peer reviewed version of the following article: [FULL CITE], which has been published in final form at [Link to final article]. Authors are not required to remove preprints posted prior to acceptance of the submitted version. Postprint This is the accepted version of the following article: [full citation], which has been published in final form at [Link to final article].-
dc.titleThe genetics of macrocephaly, autistic spectrum disorders and developmental delay in Chinese children-
dc.typeConference_Paper-
dc.identifier.emailTso, WYW: wytso@hku.hk-
dc.identifier.emailLiu, APY: apyliu@hku.hk-
dc.identifier.emailLee, PPW: ppwlee@hku.hk-
dc.identifier.emailChu, WY: chuwyy@hku.hk-
dc.identifier.emailHo, MHK: marcoho@hku.hk-
dc.identifier.emailChan, GCF: gcfchan@hku.hk-
dc.identifier.emailLau, YL: lauylung@hku.hk-
dc.identifier.emailChung, BHY: bhychung@hku.hk-
dc.identifier.authorityTso, WYW=rp01517-
dc.identifier.authorityLiu, APY=rp01357-
dc.identifier.authorityLee, PPW=rp00462-
dc.identifier.authorityChan, GCF=rp00431-
dc.identifier.authorityLau, YL=rp00361-
dc.identifier.authorityChung, BHY=rp00473-
dc.identifier.doi10.1111/dmcn.13347-
dc.identifier.hkuros272709-
dc.identifier.volume59-
dc.identifier.issuesuppl. 1-
dc.identifier.spage69, abstract no. 134-
dc.identifier.epage69, abstract no. 134-
dc.publisher.placeUnited Kingdom-
dc.customcontrol.immutablecsl 170705-

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