[article]
| Titre : |
Use of clinical chromosomal microarray in Chinese patients with autism spectrum disorder-implications of a copy number variation involving DPP10 |
| Type de document : |
texte imprimé |
| Auteurs : |
Annisa Shui Lam MAK, Auteur ; Annie Ting Gee CHIU, Auteur ; Gordon Ka Chun LEUNG, Auteur ; Christopher Chun Yu MAK, Auteur ; Yoyo Wing Yiu CHU, Auteur ; Gary Tsz Kin MOK, Auteur ; Wing Fai TANG, Auteur ; Kelvin Yuen Kwong CHAN, Auteur ; Mary Hoi Yin TANG, Auteur ; Elizabeth Tak-Kwong LAU YIM, Auteur ; Kin Wai SO, Auteur ; Victoria Qinchen TAO, Auteur ; Cheuk Wing FUNG, Auteur ; Virginia C.N. WONG, Auteur ; Mohammed UDDIN, Auteur ; So Lun LEE, Auteur ; Christian R. MARSHALL, Auteur ; Stephen SCHERER, Auteur ; Anita Sik Yau KAN, Auteur ; B.H.Y. CHUNG, Auteur |
| Article en page(s) : |
31p. |
| Langues : |
Anglais (eng) |
| Mots-clés : |
Array comparative genomic hybridization (aCGH) Autism spectrum disorder (ASD) Chinese Copy number variations (CNVs) Dpp10 |
| Index. décimale : |
PER Périodiques |
| Résumé : |
BACKGROUND: Array comparative genomic hybridization (aCGH) is recommended as a first-tier genetic test for children with autism spectrum disorder (ASD). However, interpretation of results can often be challenging partly due to the fact that copy number variants (CNVs) in non-European ASD patients are not well studied. To address this literature gap, we report the CNV findings in a cohort of Chinese children with ASD. METHODS: DNA samples were obtained from 258 Chinese ASD patients recruited from a child assessment center between January 2011 and August 2014. aCGH was performed using NimbleGen-CGX-135k or Agilent-CGX 60k oligonucleotide array. Results were classified based on existing guidelines and literature. RESULTS: Ten pathogenic CNVs and one likely pathogenic CNV were found in nine patients, with an overall diagnostic yield of 3.5%. A 138 kb duplication involving 3' exons of DPP10 (arr[GRCh37] 2q14.1(116534689_116672358)x3), reported to be associated with ASD, was identified in one patient (0.39%). The same CNV was reported as variant of uncertain significance (VUS) in DECIPHER database. Multiple individuals of typical development carrying a similar duplication were identified among our ancestry-matched control with a frequency of 6/653 (0.92%) as well as from literature and genomic databases. CONCLUSIONS: The DPP10 duplication is likely a benign CNV polymorphism enriched in Southern Chinese with a population frequency of ~1%. This highlights the importance of using ancestry-matched controls in interpretation of aCGH findings. |
| En ligne : |
http://dx.doi.org/10.1186/s13229-017-0136-x |
| Permalink : |
https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=330 |
in Molecular Autism > 8 (2017) . - 31p.
[article] Use of clinical chromosomal microarray in Chinese patients with autism spectrum disorder-implications of a copy number variation involving DPP10 [texte imprimé] / Annisa Shui Lam MAK, Auteur ; Annie Ting Gee CHIU, Auteur ; Gordon Ka Chun LEUNG, Auteur ; Christopher Chun Yu MAK, Auteur ; Yoyo Wing Yiu CHU, Auteur ; Gary Tsz Kin MOK, Auteur ; Wing Fai TANG, Auteur ; Kelvin Yuen Kwong CHAN, Auteur ; Mary Hoi Yin TANG, Auteur ; Elizabeth Tak-Kwong LAU YIM, Auteur ; Kin Wai SO, Auteur ; Victoria Qinchen TAO, Auteur ; Cheuk Wing FUNG, Auteur ; Virginia C.N. WONG, Auteur ; Mohammed UDDIN, Auteur ; So Lun LEE, Auteur ; Christian R. MARSHALL, Auteur ; Stephen SCHERER, Auteur ; Anita Sik Yau KAN, Auteur ; B.H.Y. CHUNG, Auteur . - 31p. Langues : Anglais ( eng) in Molecular Autism > 8 (2017) . - 31p.
| Mots-clés : |
Array comparative genomic hybridization (aCGH) Autism spectrum disorder (ASD) Chinese Copy number variations (CNVs) Dpp10 |
| Index. décimale : |
PER Périodiques |
| Résumé : |
BACKGROUND: Array comparative genomic hybridization (aCGH) is recommended as a first-tier genetic test for children with autism spectrum disorder (ASD). However, interpretation of results can often be challenging partly due to the fact that copy number variants (CNVs) in non-European ASD patients are not well studied. To address this literature gap, we report the CNV findings in a cohort of Chinese children with ASD. METHODS: DNA samples were obtained from 258 Chinese ASD patients recruited from a child assessment center between January 2011 and August 2014. aCGH was performed using NimbleGen-CGX-135k or Agilent-CGX 60k oligonucleotide array. Results were classified based on existing guidelines and literature. RESULTS: Ten pathogenic CNVs and one likely pathogenic CNV were found in nine patients, with an overall diagnostic yield of 3.5%. A 138 kb duplication involving 3' exons of DPP10 (arr[GRCh37] 2q14.1(116534689_116672358)x3), reported to be associated with ASD, was identified in one patient (0.39%). The same CNV was reported as variant of uncertain significance (VUS) in DECIPHER database. Multiple individuals of typical development carrying a similar duplication were identified among our ancestry-matched control with a frequency of 6/653 (0.92%) as well as from literature and genomic databases. CONCLUSIONS: The DPP10 duplication is likely a benign CNV polymorphism enriched in Southern Chinese with a population frequency of ~1%. This highlights the importance of using ancestry-matched controls in interpretation of aCGH findings. |
| En ligne : |
http://dx.doi.org/10.1186/s13229-017-0136-x |
| Permalink : |
https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=330 |
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