A nonsense variant in HERC1 is associated with intellectual disability, megalencephaly, thick corpus callosum and cerebellar atrophy

European Journal of Human Genetics

Volumn 24, Issue 3, 2016, Pages 455-458

  Nguyen, Lam Son ^a   Schneider, Taiane ^b   Rio, Marlène ^a   Moutton, Sébastien ^a   Siquier Pernet, Karine ^a   Verny, Florine ^a   Boddaert, Nathalie ^a   Desguerre, Isabelle ^a   Munich, Arnold ^a   Rosa, José Luis ^b   Cormier Daire, Valérie ^a   Colleaux, Laurence ^a  

^a PARIS DESCARTES SORBONNE PARIS CITÉ UNIVERSITY   (France)

^b UNIVERSITY OF BARCELONA   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

CARBAMAZEPINE; CLOBAZAM; MAMMALIAN TARGET OF RAPAMYCIN; TUBERIN; GUANINE NUCLEOTIDE EXCHANGE FACTOR; HERC1 PROTEIN, HUMAN; STOP CODON;

ADOLESCENT; ADULT; ALEXANDER DISEASE; ARTICLE; CEREBELLUM ATROPHY; CHILD; CONTROLLED STUDY; CORPUS CALLOSUM; EXOME; GENE; GENE SEQUENCE; GENERALIZED EPILEPSY; GENETIC VARIABILITY; HERC1 GENE; HUMAN; INTELLECTUAL IMPAIRMENT; MOROCCAN; NONSENSE MUTATION; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN PROTEIN INTERACTION; SCHOOL CHILD; SIGNAL TRANSDUCTION; SKIN FIBROBLAST; ATROPHY; CASE REPORT; CEREBELLUM; COMPLICATION; FEMALE; GENETIC PREDISPOSITION; GENETICS; MALE; MOLECULAR GENETICS; NEWBORN; NUCLEOTIDE SEQUENCE; PATHOLOGY; PEDIGREE; STOP CODON;

ADOLESCENT; ATROPHY; BASE SEQUENCE; CEREBELLUM; CHILD; CHILD, PRESCHOOL; CODON, NONSENSE; CORPUS CALLOSUM; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GUANINE NUCLEOTIDE EXCHANGE FACTORS; HUMANS; INFANT, NEWBORN; INTELLECTUAL DISABILITY; MALE; MEGALENCEPHALY; MOLECULAR SEQUENCE DATA; PEDIGREE;

EID: 84958112624     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2015.140     Document Type: Article

References (18)

1. Olney AH. Macrocephaly syndromes. Semin Pediatr Neurol 2007; 14: 128-135
2. Mirzaa GM, Poduri A: Megalencephaly and hemimegalencephaly: breakthroughs in molecular etiology. Am J Med Genet C 2014; 166C: 156-172
3. Lee JH, Huynh M, Silhavy JL., et al. De novo somatic mutations in components of the PI3K-AKT3-mTOR pathway cause hemimegalencephaly. Nat Genet 2012; 44: 941-945
4. Riviere JB, Mirzaa GM, O'Roak BJ., et al. De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes. Nat Genet 2012; 44: 934-940
5. Mirzaa GM, Parry DA, Fry AE., et al. De novo CCND2 mutations leading to stabilization of cyclin D2 cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome. Nat Genet 2014; 46: 510-515
6. Lipton JO, Sahin M: The neurology of mTOR. Neuron 2014; 84: 275-291
7. McKenna A, Hanna M, Banks E., et al. The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data. Genome Res 2010; 20: 1297-1303
8. Li H, Handsaker B, Wysoker A., et al. The Sequence Alignment/Map format and SAMtools. Bioinformatics 2009; 25: 2078-2079
9. Langouet M, Saadi A, Rieunier G., et al. Mutation in TTI2 reveals a role for triple T complex in human brain development. Hum Mutat 2013; 34: 1472-1476
10. Chong-Kopera H, Inoki K, Li Y., et al. TSC1 stabilizes TSC2 by inhibiting the interaction between TSC2 and the HERC1 ubiquitin ligase. J Biol Chem 2006; 281: 8313-8316
11. Gohlich-Ratmann G, Baethmann M, Lorenz P., et al. Megalencephaly, mega corpus callosum, and complete lack of motor development: a previously undescribed syndrome. Am J Med Genet 1998; 79: 161-167
12. Garcia-Gonzalo FR, Rosa JL. The HERC proteins: functional and evolutionary insights. Cell Mol Life Sci 2005; 62: 1826-1838
13. Ji Y, Walkowicz MJ, Buiting K., et al. The ancestral gene for transcribed, low-copy repeats in the Prader-Willi/Angelman region encodes a large protein implicated in protein trafficking, which is deficient in mice with neuromuscular and spermiogenic abnormalities. Hum Mol Genet 1999; 8: 533-542
14. Lehman AL, Nakatsu Y, Ching A., et al. A very large protein with diverse functional motifs is deficient in rjs (runty, jerky, sterile) mice. Proc Natl Acad Sci USA 1998; 95: 9436-9441
15. Mashimo T, Hadjebi O, Amair-Pinedo F., et al. Progressive Purkinje cell degeneration in tambaleante mutant mice is a consequence of a missense mutation in HERC1 E3 ubiquitin ligase. PLoS Genet 2009; 5: e1000784
16. Donaldson JG, Jackson CL. ARF family G proteins and their regulators: roles in membrane transport, development and disease. Nat Rev Mol Cell Biol 2011; 12: 362-375
17. Seixas E, Barros M, Seabra MC, Barral DC. Rab and Arf proteins in genetic diseases. Traffic 2013; 14: 871-885
18. Shoubridge C, Tarpey PS, Abidi F., et al. Mutations in the guanine nucleotide exchange factor gene IQSEC2 cause nonsyndromic intellectual disability. Nat Genet 2010; 42: 486-488