Prenatal diagnosis of megalencephalic leukodystrophy

Prenatal Diagnosis

Volumn 28, Issue 4, 2008, Pages 357-359

  Shukla, Pallavi ^a   Balakrishnan, Prahlad ^a   Agarwal, Neerja ^a   Ghosh, Manju ^a   Kabra, Madhulika ^a   Sharma, Raju ^a   Deka, Deepika ^a   Kalra, Veena ^a  

^a ALL INDIA INSTITUTE OF MEDICAL SCIENCES   (India)

Author keywords

C.135_136insC; MLC; MLC1

Indexed keywords

GENOMIC DNA;

ALEXANDER DISEASE; ANAMNESIS; ARTICLE; BLOOD SAMPLING; CASE REPORT; CEPHALOMETRY; CHORION VILLUS SAMPLING; CLINICAL FEATURE; DNA EXTRACTION; FEMALE; GENE AMPLIFICATION; GENE MUTATION; GENE SEQUENCE; GESTATIONAL AGE; HETEROZYGOTE; HUMAN; INFANT; NUCLEAR MAGNETIC RESONANCE IMAGING; POLYMERASE CHAIN REACTION; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; SCHOOL CHILD;

BASE SEQUENCE; CENTRAL NERVOUS SYSTEM CYSTS; CEPHALOMETRY; CHILD; CHILD DEVELOPMENT; CRANIOFACIAL ABNORMALITIES; DNA MUTATIONAL ANALYSIS; FEMALE; HEREDITARY CENTRAL NERVOUS SYSTEM DEMYELINATING DISEASES; HUMANS; INFANT; MEMBRANE PROTEINS; PEDIGREE; PREGNANCY; PRENATAL DIAGNOSIS;

EID: 42049115687     PISSN: 01973851     EISSN: 10970223     Source Type: Journal    
DOI: 10.1002/pd.1931     Document Type: Article

References (11)

1. Ben-Zeev B, Levy-Nissenbaum E, Lahat H, et al. 2002. Megalencephalic with subcortical cysts; a founder effect in Israeli patients and a higher than expected carrier rate among Libean Jews. Hum Genet 111: 214-218.
2. Budowle B, Chakraborty R, Giusti AM, Eisenberg AJ, Allen RC. 1991. Analysis of the VNTR locus D1S80 by the PCR followed by high-resolution PAGE. Am J Hum Genet 48: 137-144.
3. Decorte R, Cuppens H, Marynen P, Cassiman JJ. 1990. Rapid detection of hypervariable regions by the polymerase chain reaction technique. DNA Cell Biol 9: 461-469.
4. Goutieres F, Boulloche J, Bourgeois M, Aicardi J. 1996. Leukoencephalopathy, megalencephaly, and mild clinical course. A recently individualized familial leukodystrophy. Report on five new cases. J Child Neurol 11: 439-444.
5. Gorospe JR, Singhai BS, Kainu T, et al. 2004. Indian Agarwal megalencephalic leukodystrophy with cysts is caused by a common MLC1 mutation. Neurology 62: 878-882.
6. Leegwater PA, Yuan BQ, van der Steen J, et al. 2001. Mutations of MLC1 (KIAA0027), encoding a putative membrane protein, cause megalencephalic leukoencephalopathy with subcortical cysts. Am J Hum Genet 68: 831-838.
7. Leegwater PA, Boor PK, Yuan BQ, et al. 2002. Identification of novel mutations in MLC1 responsible for megalencephalic leukoencephalopathy with subcortical cysts. Hum Genet 110: 279-283.
8. Singhal BS. 2005. Leukodystrophies: Indian Scenario. Indian J Pediatr 72: 315-318.
9. Singhal BS, Gursahani RD, Udani VP, Biniwale AA. 1996. Megalencephalic leukodystrophy in an Asian Indian ethnic group. Pediatr Neurol 14: 291-296.
10. Tsujino S, Kanazawa N, Yoneyama H, et al. 2003. A common mutation and a novel mutation in Japanese patients with van der Knaap disease. J Hum Genet 48: 605-608.
11. van der Knaap MS, Barth PG, Stroink H, et al. 1995. Leukoencephalopathy with swelling and a discrepantly mild clinical course in eight children. Ann Neurol 37: 324-334.