Exome sequencing identifies pathogenic variants of VPS13B in a patient with familial 16p11.2 duplication

BMC Medical Genetics

Volumn 17, Issue 1, 2016, Pages

  Dastan, Jila ^a,b   Chijiwa, Chieko ^a   Tang, Flamingo ^b   Martell, Sally ^a,b   Qiao, Ying ^a   Rajcan Separovic, Evica ^a,b   Lewis, M E Suzanne ^a,b  

^a UNIVERSITY OF BRITISH COLUMBIA   (Canada)

^b UNIVERSITY OF BRITISH COLUMBIA   (Canada)

Author keywords

16p11.2 duplication; Case report; Cohen syndrome; Neuro developmental disorders; Variable expressivity; Whole exome sequencing

Indexed keywords

ALTERNATIVE RNA SPLICING; APRAXIA OF SPEECH; ARTICLE; CASE REPORT; CHILD; CHROMOSOME 16P; CHROMOSOME 16P11; CHROMOSOME 8Q; CHROMOSOME 8Q22; CHROMOSOME DUPLICATION; COHEN SYNDROME; CONTROLLED STUDY; DEVELOPMENTAL DISORDER; DNA DETERMINATION; DOWN REGULATION; FACE DYSMORPHIA; FAMILY ASSESSMENT; FATHER; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE; GENE EXPRESSION REGULATION; GENE IDENTIFICATION; GENE LOCATION; GENE MUTATION; GENETIC DISORDER; GENETIC VARIABILITY; HETEROZYGOTE; HUMAN; INHERITANCE; INTELLECTUAL IMPAIRMENT; JOINT LAXITY; LYMPHOBLAST; MALE; MEDICAL HISTORY; MENTAL DISEASE; MICROCEPHALY; MOLECULAR PATHOLOGY; MOTHER; NEUTROPENIA; PEDIGREE ANALYSIS; PHENOTYPE; REAL TIME POLYMERASE CHAIN REACTION; RETINA DYSTROPHY; RNA SEQUENCE; SCHOOL CHILD; SEQUENCE ANALYSIS; VPS13B GENE; WHOLE EXOME SEQUENCING; ABNORMALITIES; CHEMISTRY; CHROMOSOME 16; COPY NUMBER VARIATION; DEVELOPMENTAL DISABILITIES; DNA MUTATIONAL ANALYSIS; FINGER; GENE DUPLICATION; GENETICS; INTELLECTUAL DISABILITY; ISOLATION AND PURIFICATION; METABOLISM; MUSCLE HYPOTONIA; MYOPIA; NEURODEVELOPMENTAL DISORDERS; OBESITY; PEDIGREE; RETINAL DYSTROPHIES; RNA SPLICING;

DNA; VESICULAR TRANSPORT PROTEIN; VPS13B PROTEIN, HUMAN;

CHILD; CHROMOSOMES, HUMAN, PAIR 16; DEVELOPMENTAL DISABILITIES; DNA; DNA COPY NUMBER VARIATIONS; DNA MUTATIONAL ANALYSIS; FINGERS; GENE DUPLICATION; HUMANS; INTELLECTUAL DISABILITY; MALE; MICROCEPHALY; MUSCLE HYPOTONIA; MYOPIA; NEURODEVELOPMENTAL DISORDERS; OBESITY; PEDIGREE; PHENOTYPE; RETINAL DYSTROPHIES; RNA SPLICING; VESICULAR TRANSPORT PROTEINS;

EID: 84995414732     PISSN: None     EISSN: 14712350     Source Type: Journal    
DOI: 10.1186/s12881-016-0340-0     Document Type: Article

References (27)

1. Weiss LA, Shen Y, Korn JM, et al. Association between microdeletion and microduplication at 16p11.2 and autism. N Engl J Med. 2008;358(7):667-75.
2. Rosenfeld JA, Coe BP, Eichler EE, et al. Estimates of penetrance for recurrent pathogenic copy-number variations. Genet Med. 2013;15(6):478-81.
3. Bijlsma EK, Gijsbers AC, Schuurs-Hoeijmakers JH, et al. Extending the phenotype of recurrent rearrangements of 16p11.2: deletions in mentally retarded patients without autism and in normal individuals. Eur J Med Genet. 2009;52(2-3):77-87.
4. Shinawi M, Liu P, Kang SH, et al. Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size. J Med Genet. 2010;47(5):332-41.
5. Marshall CR, Noor A, Vincent JB, et al. Structural variation of chromosomes in autism spectrum disorder. Am J Hum Genet. 2008;82(2):477-88.
6. Kumar RA, Marshall CR, Badner JA, et al. Association and mutation analyses of 16p11.2 autism candidate genes. PLoS One. 2009;4(2):e4582.
7. McCarthy SE, Makarov V, Kirov G, et al. Microduplications of 16p11.2 are associated with schizophrenia. Nat Genet. 2009;41(11):1223-7.
8. Fernandez BA, Roberts W, Chung B, et al. Phenotypic spectrum associated with de novo and inherited deletions and duplications at 16p11.2 in individuals ascertained for diagnosis of autism spectrum disorder. J Med Genet. 2010;47(3):195-203.
9. McDonald-McGinn DM, Fahiminiya S, Revil T, et al. Hemizygous mutations in SNAP29 unmask autosomal recessive conditions and contribute to atypical findings in patients with 22q11.2DS. J Med Genet. 2013;50(2):80-90.
10. Paciorkowski AR, Keppler-Noreuil K, Robinson L, et al. Deletion 16p13.11 uncovers NDE1 mutations on the non-deleted homolog and extends the spectrum of severe microcephaly to include fetal brain disruption. Am J Med Genet A. 2013;161A(7):1523-30.
11. Classen CF, Riehmer V, Landwehr C, et al. Dissecting the genotype in syndromic intellectual disability using whole exome sequencing in addition to genome-wide copy number analysis. Hum Genet. 2013;132(7):825-41.
12. Kolehmainen J, Black GC, Saarinen A, et al. Cohen syndrome is caused by mutations in a novel gene, COH1, encoding a transmembrane protein with a presumed role in vesicle-mediated sorting and intracellular protein transport. Am J Hum Genet. 2003;72(6):1359-69.
13. Seifert W, Kuhnisch J, Maritzen T, et al. Cohen syndrome-associated protein, COH1, is a novel, giant Golgi matrix protein required for Golgi integrity. J Biol Chem. 2011;286(43):37665-75.
14. Seifert W, Kuhnisch J, Maritzen T, et al. Cohen syndrome-associated protein COH1 physically and functionally interacts with the small GTPase RAB6 at the Golgi complex and directs neurite outgrowth. J Biol Chem. 2015;290(6):3349-58.
15. Chen X, Truong TT, Weaver J, et al. Intronic alterations in BRCA1 and BRCA2: effect on mRNA splicing fidelity and expression. Hum Mutat. 2006;27(5):427-35.
16. Seifert W, Holder-Espinasse M, Kuhnisch J, et al. Expanded mutational spectrum in Cohen syndrome, tissue expression, and transcript variants of COH1. Hum Mutat. 2009;30(2):E404-420.
17. El Chehadeh-Djebbar S, Blair E, Holder-Espinasse M, et al. Changing facial phenotype in Cohen syndrome: towards clues for an earlier diagnosis. Euro J Hum Genet. 2013;21(7):736-42.
18. Hurmerinta K, Pirinen S, Kovero O, et al. Craniofacial features in Cohen syndrome: an anthropometric and cephalometric analysis of 14 patients. Clin Genet. 2002;62(2):157-64.
19. Garcia-Ballesta C, Perez-Lajarin L, Lillo OC, et al. New oral findings in Cohen syndrome. Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 2003;95(6):681-7.
20. Kivitie-Kallio S, Norio R. Cohen syndrome: essential features, natural history, and heterogeneity. Am J Med Genet. 2001;102(2):125-35.
21. Howlin P, Karpf J, Turk J. Behavioural characteristics and autistic features in individuals with Cohen Syndrome. Eur Child Adoles Psychiatry. 2005;14(2):57-64.
22. Kivitie-Kallio S, Larsen A, Kajasto K, et al. Neurological and psychological findings in patients with Cohen syndrome: a study of 18 patients aged 11 months to 57 years. Neuropediatrics. 1999;30(4):181-9.
23. Yu TW, Chahrour MH, Coulter ME, et al. Using whole-exome sequencing to identify inherited causes of autism. Neuron. 2013;77 Suppl 2:259-73.
24. Douzgou S, Petersen MB. Clinical variability of genetic isolates of Cohen syndrome. Clin Genet. 2011;79(6):501-6.
25. Bedoyan JK, Kumar RA, Sudi J, et al. Duplication 16p11.2 in a child with infantile seizure disorder. Am J Med Genet A. 2010;152A(6):1567-74.
26. Schaaf CP, Goin-Kochel RP, Nowell KP, et al. Expanding the clinical spectrum of the 16p11.2 chromosomal rearrangements: three patients with syringomyelia. Eur J Hum Genet. 2011;19(2):152-6.
27. Filges I, Sparagana S, Sargent M, et al. Brain MRI abnormalities and spectrum of neurological and clinical findings in three patients with proximal 16p11.2 microduplication. Am J Med Genet A. 2014;164A(8):2003-12.