Kaufman oculocerebrofacial syndrome in sisters with novel compound heterozygous mutation in UBE3B

American Journal of Medical Genetics, Part A

Volumn 167, Issue 3, 2015, Pages 657-663

  Pedurupillay, Christeen Ramane J ^a   Barøy, Tuva ^a   Holmgren, Asbjørn ^a   Blomhoff, Anne ^a   Vigeland, Magnus D ^a   Sheng, Ying ^a   Frengen, Eirik ^a   Strømme, Petter ^a,b   Misceo, Doriana ^a  

^a OSLO UNIVERSITY HOSPITAL   (Norway)

^b UNIVERSITY OF OSLO   (Norway)

Author keywords

Congenital defects; Craniofacial dysmorphisms; Developmental delay; Kaufman oculocerebrofacial syndrome; UBE3B; Ubiquitination; Whole exome sequencing

Indexed keywords

AMNIOCENTESIS; APGAR SCORE; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BIRTH WEIGHT; BLEPHAROPHIMOSIS; CASE REPORT; CHILD; CLINICAL EXAMINATION; CLINICAL FEATURE; CLITOROMEGALY; CONGENITAL DISORDER; CORPUS CALLOSUM; DIAGNOSTIC TEST; ENTERIC FEEDING; EPICANTHUS; FEMALE; FEVER; FRAMESHIFT MUTATION; GASTROSTOMY; GENE; HEARING IMPAIRMENT; HETEROZYGOSITY; HIGH NARROW PALATE; HUMAN; HYPERTELORISM; INCREASED POSTERIOR ANGULATION OF THE EAR; INTELLECTUAL IMPAIRMENT; KAUFMAN OCULOCEREBROFACIAL SYNDROME; LONG PHILTRUM; LOW SET EAR; MICROPHTHALMIA; MISSENSE MUTATION; MULLEN SCALES OF EARLY LEARNING; MUSCLE HYPOTONIA; MYOPIA; PALATE MALFORMATION; PALPEBRAL FISSURE ANOMALY; REAL TIME POLYMERASE CHAIN REACTION; SCORING SYSTEM; SHORT NOSE; THICK AND HIGHLY ARCHED EYEBROW WITH CLEFT; TONIC CLONIC SEIZURE; UBE3B GENE; VINELAND II TEST; COMPARATIVE GENOMIC HYBRIDIZATION; DNA MUTATIONAL ANALYSIS; EXOME; EYE ABNORMALITIES; FACIES; GENETIC ASSOCIATION STUDY; GENETICS; HETEROZYGOTE; HIGH THROUGHPUT SEQUENCING; INFANT; INTELLECTUAL DISABILITY; LIMB DEFORMITIES, CONGENITAL; MICROCEPHALY; MUTATION; PEDIGREE; PHENOTYPE; PRESCHOOL CHILD;

UBE3B PROTEIN, HUMAN; UBIQUITIN PROTEIN LIGASE;

CHILD, PRESCHOOL; COMPARATIVE GENOMIC HYBRIDIZATION; DNA MUTATIONAL ANALYSIS; EXOME; EYE ABNORMALITIES; FACIES; FEMALE; GENETIC ASSOCIATION STUDIES; HETEROZYGOTE; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; INFANT; INTELLECTUAL DISABILITY; LIMB DEFORMITIES, CONGENITAL; MICROCEPHALY; MUTATION; PEDIGREE; PHENOTYPE; UBIQUITIN-PROTEIN LIGASES;

EID: 84922985449     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.36944     Document Type: Article

References (28)

1. Ardley HC, Robinson PA. 2004. The role of Ubiquitin-protein ligases in neurodegenerative disease. Neurodegener Dis 1:71-87.
2. Basel-Vanagaite L, Dallapiccola B, Ramirez-Solis R, Segref A, Thiele H, Edwards A, Arends MJ, Miro X, White JK, Desir J, Abramowicz M, Dentici ML, Lepri F, Hofmann K, Har-Zahav A, Ryder E, Karp NA, Estabel J, Gerdin AKB, Podrini C, Ingham NJ, Altmuller J, Nurnberg G, Frommolt P, Abdelhak S, Pasmanik-Chor M, Konen O, Kelley RI, Shohat M, Nurnberg P, Flint J, Steel KP, Hoppe T, Kubisch C, Adams DJ, Borck G. 2012. Deficiency for the Ubiquitin Ligase UBE3B in a Blepharophimosis-Ptosis-Intellectual-Disability syndrome. Am J Hum Genet 91:998-1010.
3. Basel-Vanagaite L, Yilmaz R, Tang S, Reuter MS, Rahner N, Grange DK. 2014. Expanding the clinical and mutational spectrum of Kaufman oculocerebrofacial syndrome with biallelic UBE3B mutations. Hum Genet 133:939-949.
4. Briscioli V, Manoukian S, Selicorni A, Livini E, Lalatta F. 1995. Kaufman Oculocerebrofacial Syndrome in A Girl of 15 Years. Am J Med Genet 58:21-23.
5. Campeau PM, Lu JT, Dawson BC, Fokkema IFAC, Robertson SP, Gibbs RA, Lee BH. 2012. The KAT6B-related disorders genitopatellar syndrome and Ohdo/SBBYS syndrome have distinct clinical features reflecting distinct molecular mechanisms. Hum Mutat 33:1520-1525.
6. Chahrour MH, Yu TW, Lim ET, Ataman B, Coulter ME, Hill RS, Stevens CR, Schubert CR, Greenberg ME, Gabriel SB, Walsh CA. 2012. Whole-exome sequencing and homozygosity analysis implicate depolarization-regulated neuronal genes in autism. PLoS Genet 8:236-244.
7. Demirbilek H, Nuri OM, Demir K, Damla KL, Cesur Y, Dogan M, Temiz F, Mengen E, Gurbuz F, Yuksel B, Kemal TA. 2014. Normosmic idiopathic hypogonadotrophic hypogonadism due to a novel homozygous nonsense c.C969A (p.Y323X) mutation in the KISS1R gene in three unrelated families. Clin Endocrinol (Oxf) Epub ahead of print DOI: 10.1111/cen.12618
8. Dentici ML, Mingarelli R, Dallapiccola B. 2011. The difficult nosology of blepharophimosis-mental retardation syndromes: Report on two siblings. Am J Med Genet A 155A:459-465.
9. Figuera LE, Garciacruz D, Ramirezuenas ML, Riverarobles V, Cantu JM. 1993. Kaufman Oculocerebrofacial syndrome - Report of 2 new cases and further delineation. Clin Genet 44:98-101.
10. Flex E, Ciolfi A, Caputo V, Fodale V, Leoni C, Melis D, Bedeschi MF, Mazzanti L, Pizzuti A, Tartaglia M, Zampino G. 2013. Loss of function of the E3 ubiquitin-protein ligase UBE3B causes Kaufman oculocerebrofacial syndrome. J Med Genet 50:493-499.
11. Gattuso J, Patton MA, Baraitser M. 1987. The clinical spectrum of the fraser syndrome - Report of 3 new cases and review. J Med Genet 24:549-555.
12. Gong TWL, Huang L, Warner SJ, Lomax MI. 2003. Characterization of the human UBE3B gene: Structure, expression, evolution, and alternative splicing. Genomics 82:143-152.
13. Howard FM, Rowlandson P. 1981. Two brothers with the Marden-Walker syndrome: Case report and review. J Med Genet 18:50-53.
14. Huber RS, Houlihan D, Filter K. 2011. Dubowitz syndrome: A review and implications for cognitive, behavioral, and psychological features. J Clin Med Res 3:147-155.
15. Jurenka SB, Evans J. 1979. Kaufman Oculocerebrofacial syndrome: Case-report. Am J Med Genet 3:15-19.
16. Kaufman RL, Riomoin DL, Prensky AL, Sly WS. 1971. An Oculocerebrofacial syndrome. Birth Defects Orig Artic Ser 7:135-138.
17. Kelley RI, Hennekam RC. 2000. The Smith-Lemli-Opitz syndrome. J Med Genet 37:321-335.
18. Miro X, Zhou XL, Boretius S, Michaelis T, Kubisch C, Alvarez-Bolado G, Gruss P. 2009. Haploinsufficiency of the murine polycomb gene Suz12 results in diverse malformations of the brain and neural tube. Dis Model Mech 2:412-418.
19. Nagy E, Maquat LE. 1998. A rule for termination-codon position within intron-containing genes: When nonsense affects RNA abundance. Trends Biochem Sci 23:198-199.
20. Ohta A, Schumacher FR, Mehellou Y, Johnson C, Knebel A, Macartney TJ, Wood NT, Alessi DR, Kurz T. 2013. The CUL3-KLHL3 E3 ligase complex mutated in Gordon's hypertension syndrome interacts with and ubiquitylates WNK isoforms: Disease-causing mutations in KLHL3 and WNK4 disrupt interaction. Biochem J 451:111-122.
21. Pasu S, Dhir L, Mackenzie S, Thompson G. 2011. Fraser Syndrome: Case report with review of literature. Open J Ophthalmol 1:1-3.
22. Scheffner M, Staub O. 2007. HECT E3s and human disease. BMC Biochem 8:S1-S6.
23. Symoens S, Hulmes DJ, Bourhis JM, Coucke PJ, De PA, Malfait F. 2014. Type I Procollagen C-Propeptide defects: Study of genotype-phenotype correlation and predictive role of crystal structure. Hum Mutat Epub ahead of print DOI: 10.1002/humu.22677
24. Toriello HV, Carey JC, Addor MC, Allen W, Burke L, Chun N, Dobyns W, Elias E, Gallagher R, Hordijk R, Hoyme G, Irons M, Jewett T, LeMerrer M, Lubinsky M, Martin R, McDonald-McGinn D, Neumann L, Newman W, Pauli R, Seaver L, Tsai A, Wargowsky D, Williams M, Zackai E. 2003. Toriello-Carey syndrome: Delineation and review. Am J Med Genet A 123A:84-90.
25. Verloes A, Bremond-Gignac D, Isidor B, David A, Baumann C, Leroy MA, Stevens R, Gillerot Y, Heron D, Heron B, Benzacken B, Lacombe D, Brunner H, Bitoun P. 2006. Blepharophimosis-Mental Retardation (BMR) Syndromes: A proposed clinical classification of the so-called Ohdo syndrome, and delineation of two new BMR syndromes, one x-linked and one autosomal recessive. Am J Med Genet A 140A:1285-1296.
26. Vulto-van Silfhout AT, de Vries BBA, van Bon BWM, Hoischen A, Ruiterkamp-Versteeg M, Gilissen C, Gao FJ, van Zwam M, Harteveld CL, van Essen AJ, Hamel BCJ, Kleefstra T, Willemsen MAAP, Yntema HG, van Bokhoven H, Brunner HG, Boyer TG, de Brouwer APM. 2013. Mutations in MED12 cause X-linked Ohdo syndrome. Am J Hum Genet 92:401-406.
27. Wei Li, Bengtson Mario H, Ulbrich Axel, Matsuda Akio, Chanda Sumit K. 2008. Genome-wide and functional annotation of human E3 Ubiquitin ligases identifies MULAN, a mitochondrial E3 that regulates the organelle's dynamics and signaling. PLoS ONE 487-504.
28. Zhang J, Maquat LE. 1997. Evidence that translation reinitiation abrogates nonsense-mediated mRNA decay in mammalian cells. EMBO J 16:826-833.