Microcephaly with or without chorioretinopathy, lymphoedema, or mental retardation (MCLMR): Review of phenotype associated with KIF11 mutations

European Journal of Human Genetics

Volumn 22, Issue 7, 2014, Pages 881-887

  Jones, Gabriela E ^a   Ostergaard, Pia ^b   Moore, Anthony T ^c   Connell, Fiona C ^d   Williams, Denise ^e   Quarrell, Oliver ^f   Brady, Angela F ^g   Spier, Isabel ^h   Hazan, Filiz ⁱ   Moldovan, Oana ^j   Wieczorek, Dagmar ^k   Mikat, Barbara ^k   Petit, Florence ^l   Coubes, Christine ^m   Saul, Robert A ⁿ   Brice, Glen ^o   Gordon, Kristiana ^b   Jeffery, Steve ^b   Mortimer, Peter S ^b   Vasudevan, Pradeep C ^a   Mansour, Sahar ^o   more..

^a UNIVERSITY HOSPITALS OF LEICESTER NHS TRUST   (United Kingdom)

^b ST GEORGE'S UNIVERSITY OF LONDON   (United Kingdom)

^c MOORFIELDS EYE HOSPITAL   (United Kingdom)

^d GUY'S AND ST THOMAS' NHS FOUNDATION TRUST   (United Kingdom)

^e BIRMINGHAM WOMEN S HOSPITAL   (United Kingdom)

^f SHEFFIELD CHILDREN'S NHS FOUNDATION TRUST   (United Kingdom)

^g EALING HOSPITAL NHS TRUST   (United Kingdom)

^h UNIVERSITY OF BONN   (Germany)

ⁱ DR BEHÇET UZ CHILDREN'S HOSPITAL   (Turkey)

^j HOSPITAL DE SANTA MARIA   (Portugal)

^k UNIVERSITY HOSPITAL ESSEN   (Germany)

^l UNIV LILLE   (France)

^m HÔPITAL ARNAUD DE VILLENEUVE   (France)

ⁿ Children's Hospital   (United States)

^o ST GEORGE'S UNIVERSITY HOSPITALS NHS FOUNDATION TRUST   (United Kingdom)

more..

Author keywords

Chorioretinal dysplasia; KIF11; Lymphoedema; MCLMR; Microcephaly

Indexed keywords

AUTOSOMAL DOMINANT DISORDER; CLINICAL ARTICLE; CLINICAL FEATURE; CONGENITAL HEART MALFORMATION; DISEASE SEVERITY; EPILEPSY; FAMILIAL DISEASE; FEMALE; FRAMESHIFT MUTATION; GENE MUTATION; HUMAN; KIF11 GENE; LEARNING DISORDER; MALE; MICROCEPHALY WITH OR WITHOUT CHORIORETINOPATHY LYMPHEDEMA OR MENTAL RETARDATION; MISSENSE MUTATION; MUTATOR GENE; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PENETRANCE; PHENOTYPE; PREVALENCE; PRIORITY JOURNAL; RARE DISEASE; REVIEW; COHORT ANALYSIS; FAMILY; GENETICS; INTELLECTUAL IMPAIRMENT; LYMPHEDEMA; MICROCEPHALY; MUTATION; RETINA DISEASE;

KIF11 PROTEIN, HUMAN; KINESIN;

COHORT STUDIES; FAMILY; FEMALE; HUMANS; INTELLECTUAL DISABILITY; KINESIN; LYMPHEDEMA; MALE; MICROCEPHALY; MUTATION; PENETRANCE; PHENOTYPE; RETINAL DISEASES;

EID: 84902345350     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2013.263     Document Type: Review

References (28)

1. Feingold M, Bartoshesky L: Microcephaly, lymphoedema, and chorioretinal dysplasia: A distinct syndrome?. Am J Med Genet 1992; 43: 1030-1031
2. Ostergaard P, Simpson MA, Mendola A et al: Mutations in KIF11 cause autosomaldominant microcephaly variably associated with congenital lymphoedema and chorioretinopathy. Am J Hum Genet 2012; 90: 56-62
3. Connell FC, Gordon K, Brice G et al: The classification and diagnostic algorithm for primary lymphatic dysplasia: An update from 2010 to include molecular findings. Clin Genet 2013; 84: 303-314
4. Baraitser M: Microcephaly; in The genetics of Neurological Disorders, 2nd edn. Oxford: Oxford Medical Publications, 1990, vol 18, pp 26-33
5. Woods CG, Parker A: Investigating microcephaly. Arch Dis Child 2013; 0: 1-7
6. Abuelo D: Microcephaly syndromes. Semin Pediatr Neurol 2007; 14: 118-127
7. Vasudevan PC, Garcia-Minaur S, Botella MP, Perez-Aytes A, Shannon NL, Quarrell OWJ: Microcephaly-lymphoedema-chorioretinal dysplasia: Three cases to delineate the facial phenotype and review of the literature. Clin Dysmorphol 2005; 14: 109-116
8. Dolk H: The predictive value of microcephaly during the first year of life for mental retardation at seven years. Dev Med Child Neurol 1991; 33: 974-983
9. Trzupek KM, Falk RE, Demer JL, Weleber RG: Microcephaly with chorioretinopathy in a brother-sister pair: Evidence for germ line mosacism and further delineation of the ocular phenotype. Am J Med Genet A 2007; 143A: 1218-1222. (Pubitemid 46870078
10. Custer DA, Vezina G, Vaught DR et al: Neurodevelopmental and neuroimaging correlates in nonsyndromal microcephalic children. J Dev Behav Pediatr 2000; 21: 12-18
11. Pastora N, Peralta J, Canal-Fontcuberta I et al: Microcephaly-lymphedema- chorioretinal dysplasia associated with pachymicrogyria and atrophy of the cerebellar vermis: An integration of brain-ocular migration disorders. Ophthalmic Genet 2012; 33: 116-118
12. Lee BJ, Kim JH, Yu YS: Lissencephaly and mild cerebellar vermis hypoplasia in a case of microcephaly and chorioretinal dysplasia. Ophthalmic Genet 2010; 31: 89-93
13. Casteels I, Devriendt K, Leys A et al: Autosomal dominant microcephaly-lymphoedema-chorioretinal dysplasia syndrome. Br J Ophthalmol 2001; 85: 496
14. Puffenberger EG, Jinks RN, Sougnez C et al: Genetic mapping and exome sequencing identify variants associated with five novel diseases. PLoS One 2012; 7: E28936
15. Abdel-Salam GM, Halasz AA, Czeizel AE: Association of epilepsy with different groups of microcephaly. Dev Med Child Neurol 2000; 42: 760-767
16. Hordijk R, van de Logt F, Houtman WA, van Essen AJ: Chorioretinal dysplasiamicrocephaly-mental retardation syndrome: Another family with autosomal dominant inheritance. Genet Couns 1996; 7: 113-122. (Pubitemid 26241712
17. Atchaneeyasakul LO, Linck L, Weleber RG: Microcephaly with chorioretinal degeneration. Ophthalmic Genet 1998; 19: 39-48. (Pubitemid 28230754
18. Jarmas AL, Weaver DD, Ellis FD, Davis A: Microcephaly, microphthalmia, falciform retinal folds, and blindness. A new syndrome. Am J Dis Child 1981; 135: 930-933. (Pubitemid 11027137
19. Young ID, Fielder AR, Simpson K: Microcephaly, microphthalmos and retinal folds: Report of a family. J Med Genet 1987; 24: 172-174. (Pubitemid 17032756
20. Limwongse C, Wyszynski RE, Dickerman LH, Robin NH: Microcephaly- lymphoedemachorioretinal dysplasia: A unique genetic syndrome with variable expression and possible characteristic facial appearance. Am J Med Genet 1999; 86: 215-218. (Pubitemid 29465865
21. Milroy WF: An undescribed variety of heritable oedema. NY Med J 1892; 56: 505-508
22. Eventov-Friedman S, Singer A, Shinwell ES: Microcephaly, lymphoedema, chorioretinopathy and atrial septal defect: A case report and review of the literature. Acta Paediatr 2009; 98: 758-759
23. Zhao Q, Ma X, Jia B, Huang G: Prevalence of congenital heart disease at live birth: An accurate assessment by echocardiographic screening. Acta Paediatr 2013; 102: 397-402
24. McKusick VA, Stauffer M, Knox DL, Clark DB: Chorioretinopathy with hereditary microcephaly. Arch Ophthal 1966; 75: 597-600
25. Strenge S, Froster UG: Microcephaly-lymphoedema syndrome: Report of a family with short stature as an additional feature. Am J Med Genet 1998; 80: 506-509. (Pubitemid 29002019
26. Hazan F, Ostergaard P, Ozturk T et al: A novel KIF11 mutation in a Turkish patient with microcephaly, lymphoedema, and chorioretinal dysplasia from a consanguineous family. Am J Med Genet A 2012; 158A: 1686-1689
27. Prattichizzo C, Macca M, Novelli V et al: Mutational spectrum of the oral-facial-digital type I syndrome: A study on a large collection of patients. Hum. Mutat 2008; 29: 1237-1246
28. Winter RM, Baraitser M: London Medical Databases: Winter Baraitser Dysmorphology Database Version 1.0.24. Oxford: Oxford University Press, 2007.