Prenatal molecular diagnosis of a severe type of L1 syndrome (X-linked hydrocephalus): Clinical article

Journal of Neurosurgery: Pediatrics

Volumn 8, Issue 4, 2011, Pages 411-416

  Yamasaki, Mami ^a   Nonaka, Masahiro ^a   Suzumori, Nobuhiro ^b   Nakamura, Hiroaki ^c   Fujita, Hiroshi ^d   Namba, Akira ^e   Kamei, Yoshimasa ^f   Yamada, Takahiro ^g   Pooh, Ritsuko K ^h   Tanemura, Mitsuyo ⁱ   Sudo, Norihito ^j   Nagasaka, Masato ^k   Yoshioka, Ema ^a   Shofuda, Tomoko ^a   Kanemura, Yonehiro ^a  

^a NATIONAL HOSPITAL ORGANIZATION   (Japan)

^b NAGOYA CITY UNIVERSITY GRADUATE SCHOOL OF MEDICAL SCIENCES   (Japan)

^c Osaka City Sumiyoshi Hospital   (Japan)

^d HIROSAKI UNIVERSITY   (Japan)

^e SAITAMA MEDICAL UNIVERSITY   (Japan)

^f UNIVERSITY OF TOKYO   (Japan)

^g HOKKAIDO UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^h Clinical Research Institute   (Japan)

ⁱ Tanemura Women's Clinic   (Japan)

^j Nagaoka Nish Hospital   (Japan)

^k AICHI CHILDREN'S HEALTH AND MEDICAL CENTER   (Japan)

more..

Author keywords

Amniotic fluid aspiration; Chorionic villous sampling; L1CAM gene; Prenatal diagnosis; X linked hydrocephalus

Indexed keywords

NERVE CELL ADHESION MOLECULE L1;

ARTICLE; CLINICAL ARTICLE; FEMALE; FETUS; GENE MUTATION; GENETIC ANALYSIS; GENETIC COUNSELING; GENETIC SCREENING; HETEROZYGOTE; HUMAN; HYDROCEPHALUS; JAPAN; MALE; MOLECULAR DIAGNOSIS; PRACTICE GUIDELINE; PREGNANCY; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; X LINKED HYDROCEPHALUS;

CEREBRAL AQUEDUCT; DNA MUTATIONAL ANALYSIS; FEMALE; FETAL DISEASES; GENETIC DISEASES, X-LINKED; HETEROZYGOTE; HUMANS; HYDROCEPHALUS; MALE; MUTATION; NEURAL CELL ADHESION MOLECULE L1; PEDIGREE; PRENATAL DIAGNOSIS; SEVERITY OF ILLNESS INDEX;

EID: 80053490696     PISSN: 19330707     EISSN: 19330715     Source Type: Journal    
DOI: 10.3171/2011.7.PEDS10531     Document Type: Article

References (22)

1. Finckh U, Gal A: Prenatal molecular diagnosis of L1-spectrum disorders. Prenat Diagn 20:744-745, 2000
2. Fransen E, Van Camp G, D'Hooge R, Vits L, Willems PJ: Genotype-phenotype correlation in L1 associated diseases. J Med Genet 35:399-404, 1998 (Pubitemid 28211635)
3. Genetic-Medicine-Related Societies: Guidelines for Genetic Testing. (http://www.jshg.jp/pdf/10academies-e.pdf) [Accessed July 28, 2011]
4. Gu SM, Orth U, Zankl M, Schröder J, Gal A: Molecular analysis of the L1CAM gene in patients with X-linked hydrocephalus demonstrates eight novel mutations and suggests non-allelic heterogeneity of the trait. Am J Med Genet 71: 336-340, 1997 (Pubitemid 27330110)
5. Hlavin ML, Lemmon V: Molecular structure and functional testing of human L1CAM: an interspecies comparison. Genomics 11:416-423, 1991
6. Jouet M, Kenwrick S: Gene analysis of L1 neural cell adhesion molecule in prenatal diagnosis of hydrocephalus. Lancet 345:161-162, 1995
7. Jouet M, Rosenthal A, Armstrong G, MacFarlane J, Stevenson R, Paterson J, et al: X-linked spastic paraplegia (SPG1), MASA syndrome and X-linked hydrocephalus result from mutations in the L1 gene. Nat Genet 7:402-407, 1994 (Pubitemid 24204417)
8. Kanemura Y, Okamoto N, Sakamoto H, Shofuda T, Kamiguchi H, Yamasaki M: Molecular mechanisms and neuroimaging criteria for severe L1 syndrome with X-linked hydrocephalus. J Neurosurg 105 (5 Suppl):403-412, 2006 (Pubitemid 44954771)
9. Kanemura Y, Takuma Y, Kamiguchi H, Yamasaki M: First case of L1CAM gene mutation identified in MASA syndrome in Asia. Congenit Anom (Kyoto) 45:67-69, 2005 (Pubitemid 41657760)
10. MacFarlane JR, Du JS, Pepys ME, Ramsden S, Donnai D, Charlton R, et al: Nine novel L1 CAM mutations in families with X-linked hydrocephalus. Hum Mutat 9:512-518, 1997 (Pubitemid 27250814)
11. Michaelis RC, Du YZ, Schwartz CE: The site of a missense mutation in the extracellular Ig or FN domains of L1CAM influences infant mortality and the severity of X linked hydrocephalus. J Med Genet 35:901-904, 1998 (Pubitemid 28486616)
12. Panayi M, Gokhale D, Mansour S, Elles R: Prenatal diagnosis in a family with X-linked hydrocephalus. Prenat Diagn 25:930-933, 2005 (Pubitemid 41494990)
13. Piccione M, Matina F, Fichera M, Lo Giudice M, Damiani G, Jakil MC, et al: A novel L1CAM mutation in a fetus detected by prenatal diagnosis. Eur J Pediatr 169:415-419, 2010
14. Pineda-Alvarez DE, Dubourg C, David V, Roessler E, Muenke M: Current recommendations for the molecular evaluation of newly diagnosed holoprosencephaly patients. Am J Med Genet C Semin Med Genet 154C:93-101, 2010
15. Publishing Committee for Guideline of Fetal Hydrocephalus: [Guideline for Fetal Hydrocephalus Diagnosis and Management.] Kinpodo: Kyoto, Japan, 2005 (Jpn)
16. Renier D, Sainte-Rose C, Pierre-Kahn A, Hirsch JF: Prenatal hydrocephalus: outcome and prognosis. Childs Nerv Syst 4:213-222, 1988
17. Rosenthal A, Jouet M, Kenwrick S: Aberrant splicing of neural cell adhesion molecule L1 mRNA in a family with X-linked hydrocephalus. Nat Genet 2:107-112, 1992
18. Senat MV, Bernard JP, Delezoide A, Saugier-Veber P, Hillion Y, Roume J, et al: Prenatal diagnosis of hydrocephalusstenosis of the aqueduct of Sylvius by ultrasound in the first trimester of pregnancy. Report of two cases. Prenat Diagn 21:1129-1132, 2001 (Pubitemid 34118194)
19. Van Camp G, Fransen E, Vits L, Raes G, Willems PJ: A locusspecific mutation database for the neural cell adhesion molecule L1CAM (Xq28). Hum Mutat 8:391, 1996
20. Vos YJ, De Walle HE, Bos KK, Stegeman JA, Ten Berge AM, Bruining M, et al: Genotype-phenotype correlations in L1 syndrome: a guide for genetic counselling and mutation analysis. J Med Genet 47:169-175, 2010
21. Wilson PL, Kaltman BB, Mulvihill JJ, Wilkins J, Wagner AF, Goodman JR: Prenatal identification of a novel R937P L1CAM missense mutation Genet Test Mol Biomarkers 13: 515-519, 2009
22. Yamasaki M, Arita N, Hiraga S, Izumoto S, Morimoto K, Nakatani S, et al: A clinical and neuroradiological study of X-linked hydrocephalus in Japan. J Neurosurg 83:50-55, 1995