European Journal of Human Genetics - Clinical utility gene card for: 16p13.11 microdeletion syndrome

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European Journal of Human Genetics - Clinical utility gene card for: 16p13.11 microdeletion syndrome

Clinical Utility Gene Card

European Journal of Human Genetics advance online publication 9 October 2013; doi: 10.1038/ejhg.2013.230

Clinical utility gene card for: 16p13.11 microdeletion syndrome

Maria Tropeano¹, Joris Andrieux² and David A Collier^1,3

1. ¹MRC Social, Genetic and Developmental Psychiatry Centre, Institute of Psychiatry, King’s College London, London, UK
2. ²Institut de Génétique Médicale, CHRU de Lille, Lille, France
3. ³Discovery Neuroscience Research, Eli Lilly and Company Ltd, Lilly Research Laboratories, Erl Wood Manor, Surrey, UK

Correspondence: Professor DA Collier or Dr M Tropeano, MRC Social, Genetic and Developmental Psychiatry Centre, Institute of Psychiatry, King’s College London, De Crespigny Park, Denmark Hill, SE5 8AF London, UK. Tel: +44 20 7848 0631; Fax: +44 20 7848 0802; E-mails: david.collier@kcl.ac.uk or maria.tropeano@kcl.ac.uk

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1. Disease characteristics

1.1 Name of the disease (synonyms)

16p13.11 microdeletion syndrome/Del(16)(p13.11)/16p13.11 monosomy syndrome.

1.2 OMIM# of the disease

Not applicable.

1.3 Name of the analysed genes or DNA/chromosome segments

16p13.11-p12.3: chr16:14.66–18.70 Mb, RefSeq NC_000016.9 (hg19 human reference sequence, February 2009, build 37).

1.4 OMIM# of the gene(s)

Putative candidate genes: NDE1, 609449; NTAN1, not applicable.

Other genes in the critical deleted region (chr16: 15.48–16.32 Mb, GRCh37/hg19): MPV17L, not applicable; C16orf45, not applicable; KIAA0430, 614593; MYH11, 160745; FOPNL, not applicable; ABCC1, 158343; ABCC6, 603234.

Review of the analytical and clinical validity as well as of the clinical utility of DNA-based testing for microdeletions at the 16p13.11 locus in diagnostic and prenatal settings and for risk assessment in relatives.

1.5 Mutational spectrum

The syndrome is caused by microdeletions in the 16p13.11-p12.3 genomic region. The 16p13.11 locus is a genomic hotspot particularly rich in low-copy repeats (LCRs), highly homologous DNA sequences that increase the likelihood of copy number mutations through non-allelic homologous recombination.¹ The 16p13.11 region can be subdivided into three single-copy sequence intervals called interval I, II and III, each flanked by LCRs.² Typical 16p13.11 microdeletions have very variable size (from 0.8 to 3.3 Mb), and encompass one or more of the three intervals.^{2, 3, 4, 5, 6, 7, 8, 9, 10, 11, 12}