Identification of novel mutations in MLC1 responsible for megalencephalic leukoencephalopathy with subcortical cysts

Human Genetics

Volumn 110, Issue 3, 2002, Pages 279-283

  Leegwater, P A J ^b   Boor, P K I ^b   Yuan, B Q ^b   Van Der Steen, J ^b   Visser, A ^b   Konst A A M ^b   Oudejans, C B M ^b   Schutgens, R B H ^b   Pronk, J C ^a,b   Van Der Knaap, M S ^b  

^a VU UNIVERSITY AMSTERDAM   (Netherlands)

^b ACADEMIC MEDICAL CENTER   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID; CATION CHANNEL; MEMBRANE PROTEIN;

ARTICLE; CATATONIC SCHIZOPHRENIA; CLINICAL ARTICLE; CONTROLLED STUDY; GENE MUTATION; GENETIC CODE; GENETIC POLYMORPHISM; HEMISPHERE; HUMAN; LEUKOENCEPHALOPATHY; MACROCEPHALY; MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYST; MOTOR DYSFUNCTION; NEUROLOGIC DISEASE; NUCLEAR MAGNETIC RESONANCE IMAGING; PARIETAL LOBE; PRIORITY JOURNAL; TEMPORAL CORTEX; WHITE MATTER;

AMINO ACID SEQUENCE; ANIMALS; BASE SEQUENCE; CENTRAL NERVOUS SYSTEM CYSTS; DEMENTIA, VASCULAR; DNA; DNA MUTATIONAL ANALYSIS; EXONS; HEREDODEGENERATIVE DISORDERS, NERVOUS SYSTEM; HUMANS; MEMBRANE PROTEINS; MICE; MOLECULAR SEQUENCE DATA; MUTATION; POTASSIUM CHANNELS; SCHIZOPHRENIA, CATATONIC; SEQUENCE HOMOLOGY, AMINO ACID; SEQUENCE HOMOLOGY, NUCLEIC ACID;

EID: 0036523995     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00439-002-0682-x     Document Type: Article

References (15)

1. Biervert C, Schroeder BC, Kubisch C, Berkovic SF, Propping P, Jentsch TJ, Steinlein OK (1998) A potassium channel mutation in neonatal human epilepsy. Science 279:403-406
2. Browne DL, Gancher ST, Nutt JG, Brunt ER, Smith EA, Kramer P, Litt M (1994) Episodic ataxia/myokymia syndrome is associated with point mutations in the human potassium channel gene, KCNA1. Nat Genet 8:136-140
3. Dunnen JT den, Antonarakis SE (2001) Nomenclature for the description of human sequence variations. Hum Genet 109:121-124
4. Leegwater PAJ, Yuan BQ, Van Der Steen J, Mulders J, Könst AAM, Boor PKI, Mejaski-Bosnjak V, Maarel SM van der, Frants RR, Oudejans CBM, Schutgens RBH, Pronk JC, Vander Knaap MS (2001) Mutations in MLC1 (KIAA0027), encoding a putative membrane protein cause megalencephalic leukoencephalopathy with subcortical cysts. Am J Hum Genet 68:831-838
5. Maquat LE, Carmichael GG (2001) Quality control of mRNA function. Cell 104:173-176
6. McQuillin G, Kalsi H, Moorey G, Lamb S, Mayet D, Quested H, Gurling (2001) Exon 11 of the chromosome 22 gene WKL1, previously shown to exhibit a base pair mutation in rare cases of schizophrenia, was found to contain an insertion/deletion polymorphism, affecting the receptor channel amino acid sequence. Am J Hum Genet 69:548S
7. Meyer J, Huberth A, Ortega G, Syagailo YV, Jatzke S, Mössner R, Strom TM, Ulzheimer-Teuber I, Stöber G, Schmitt A, Lesch KP (2001) A missense mutation in a novel gene encoding a putative cation channel is associated with catatonic schizophrenia in a large pedigree. Mol Psychiatry 6:302-306
8. Povey S, Lovering R, Bruford E, Wright M, Lush M, Wain H (2001) The HUGO Gene Nomenclature Committee (HGNC). Hum Genet DOI 10.1007/s00439-001-0615-0
9. Scheffer H, Brunt ERP, Mol GJJ, Van Der Vlies P, Stulp RP, Mantel G, Averyanov YN, Hofstra RWM, Buys CHCM (1998) Three novel KCNA1 mutations in episodic ataxia type I families. Hum Genet 102:464-466
10. Singhal BS, Gursahani RD, Udani VP, Biniwale AA (1996) Megalencephalic leucodystrophy in an Asian Indian ethnic group. Pediatr Neurol 14:291-296
11. Stöber G, Saar K, Rüschendorf F, Meyer J, Nürnberg G, Jatzke S, Franzek E, Reis A, Lesch K.-P, Wienker TF, Beckmann H (2000) Splitting schizophrenia: Periodic catatonia susceptibility locus on chromosome 15q15. Am J Hum Gen 67:1201-1207
12. Topçu M, Saatci I, Topcuoglu MA, Kose G, Kunak B (1998) Megalencephaly and leukodystrophy with mild clinical course: A report on 12 new cases. Brain Dev 20:142-153
13. tel. Am J Hum Genet 66:733-739
14. Van Der Knaap MS, Barth PG, Stroink H, Van Nieuwenhuizen O, Arts WFM, Hoogenraad F, Valk J (1995) Leukoencephalopathy with swelling and a discrepantly mild clinical course in eight children. Ann Neurol 37:324-334
15. Van Der Knaap MS, Barth PG, Vrensen GFJM, Valk J (1996) Histopathology of an infantile-onset spongiform leukoencephalopathy with a discrepantly mild clinical course. Acta Neuropathol 92:206-212