scholarly journals L1 syndrome

2020 ◽  
Author(s):  
Keyword(s):  
2021 ◽  
Author(s):  
Timothy D. Gauntner ◽  
Manasa Karumuri ◽  
Miguel A. Guzman ◽  
Sara E. Starnes ◽  
Sherri Besmer ◽  
...  

2015 ◽  
Vol 58 (6-7) ◽  
pp. 364-368 ◽  
Author(s):  
Marie Shaw ◽  
Tzu Ying Yap ◽  
Lyndal Henden ◽  
Melanie Bahlo ◽  
Alison Gardner ◽  
...  

2011 ◽  
Vol 8 (4) ◽  
pp. 411-416 ◽  
Author(s):  
Mami Yamasaki ◽  
Masahiro Nonaka ◽  
Nobuhiro Suzumori ◽  
Hiroaki Nakamura ◽  
Hiroshi Fujita ◽  
...  

Object The aim of this study was to evaluate the feasibility of prenatal L1CAM gene testing for X-linked hydrocephalus (XLH). Methods In a nationwide study conducted in Japan between 1999 and 2009, the authors identified 51 different L1CAM gene mutations in 56 families with XLH. Of these 56 families, 9 obligate carriers requested prenatal gene mutation analysis for the fetal L1CAM gene in 14 pregnancies. Results In 2004, new clinical guidelines for genetic testing were established by 10 Japanese genetic medicine–related societies. These guidelines stated that the genetic testing of carriers should be done only with their consent and with genetic counseling. Therefore, because females are carriers, since 2004, L1CAM gene analysis has not been performed for female fetuses. The authors report on 7 fetal genetic analyses that were performed at the request of families carrying L1CAM mutations, involving 3 female (prior to 2004) and 4 male fetuses. Of the 7 fetuses, 3 (1 male and 2 female) carried L1CAM mutations. Of these 3, 1 pregnancy (the male fetus) was terminated; in the other cases, the pregnancies continued, and 3 female and 3 male babies without the XLH phenotype were born. Conclusions Prenatal L1CAM gene testing combined with genetic counseling was beneficial for families carrying L1CAM mutations.


2010 ◽  
Vol 155 (2) ◽  
pp. 439-441 ◽  
Author(s):  
Malin Rehnberg ◽  
Jon Jonasson ◽  
Cecilia Gunnarsson

2021 ◽  
Vol 8 (4) ◽  
pp. 223-232
Author(s):  
Madhan Srinivasamurthy ◽  
◽  
Nagaraj Kakanahalli ◽  
Shreeshail V. Benakanal ◽  

<abstract> <p>Hydrocephalus is a neurodevelopmental, X-linked recessive disorder caused by mutations in the <italic>L1CAM</italic> gene. The <italic>L1CAM</italic> gene encodes for L1CAM protein which is essential for the nervous system development including adhesion between neurons, Myelination, Synaptogenesis etc. Herein, the present study has reported mutations in L1 syndrome patient with Hydrocephalus and Adducted thumb. Genomic DNA was extracted from patients whole blood (n = 18). The 11 exons of the <italic>L1CAM</italic> gene were amplified using specific PCR primers. The sequenced data was analysed and the pathogenicity of the mutation was predicted using the various bioinformatics programs: PROVEAN, PolyPhen2, and MUpro. The results revealed that the proband described here had nonsense mutation G1120→T at position 1120 in exon 9 which is in extracellular immunoglobulin domain (Ig4) of the <italic>L1CAM</italic> gene. This nonsense mutation is found to be truncated with a deleterious effect on developing brain of the child, and this is the first report of this novel mutation in patient with X-linked Hydrocephalus in India.</p> </abstract>


2010 ◽  
Vol 40 (1) ◽  
pp. 222-237 ◽  
Author(s):  
Michael K.E. Schäfer ◽  
Yun-Chung Nam ◽  
Anice Moumen ◽  
Laura Keglowich ◽  
Elisabeth Bouché ◽  
...  
Keyword(s):  

2006 ◽  
Vol 105 (5) ◽  
pp. 403-412 ◽  
Author(s):  
Yonehiro Kanemura ◽  
Nobuhiko Okamoto ◽  
Hiroaki Sakamoto ◽  
Tomoko Shofuda ◽  
Hiroyuki Kamiguchi ◽  
...  

2018 ◽  
Vol 172 ◽  
pp. 20-23 ◽  
Author(s):  
Esra Isik ◽  
Huseyin Onay ◽  
Tahir Atik ◽  
Bilcag Akgun ◽  
Ozgur Cogulu ◽  
...  

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