scholarly journals L1 syndrome

2020 ◽  
Author(s):  
Keyword(s):  
L1 Syndrome

scholarly journals Hirschsprung Disease in an Infant with L1 syndrome: Report of a New Case and a novel L1CAM variant

2021 ◽  
Author(s):  
Timothy D. Gauntner ◽  
Manasa Karumuri ◽  
Miguel A. Guzman ◽  
Sara E. Starnes ◽  
Sherri Besmer ◽  
...  
Keyword(s):  
Hirschsprung Disease ◽  
L1 Syndrome ◽  
Syndrome Report

scholarly journals Identical by descent L1CAM mutation in two apparently unrelated families with intellectual disability without L1 syndrome

2015 ◽  
Vol 58 (6-7) ◽  
pp. 364-368 ◽  
Author(s):  
Marie Shaw ◽  
Tzu Ying Yap ◽  
Lyndal Henden ◽  
Melanie Bahlo ◽  
Alison Gardner ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Identical By Descent ◽  
L1 Syndrome

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

2011 ◽  
Vol 8 (4) ◽  
pp. 411-416 ◽  
Author(s):  
Mami Yamasaki ◽  
Masahiro Nonaka ◽  
Nobuhiro Suzumori ◽  
Hiroaki Nakamura ◽  
Hiroshi Fujita ◽  
...  
Keyword(s):  
Genetic Counseling ◽  
Genetic Testing ◽  
Gene Mutations ◽  
Syndrome X ◽  
Male Fetus ◽  
Gene Testing ◽  
L1 Syndrome ◽  
Genetic Medicine ◽  
Gene Mutation Analysis ◽  
Severe Type

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.

Novel L1CAM splice site mutation in a young male with L1 syndrome

2010 ◽  
Vol 155 (2) ◽  
pp. 439-441 ◽  
Author(s):  
Malin Rehnberg ◽  
Jon Jonasson ◽  
Cecilia Gunnarsson
Keyword(s):  
Splice Site ◽  
Young Male ◽  
Splice Site Mutation ◽  
Site Mutation ◽  
L1 Syndrome

scholarly journals A truncation mutation in the L1CAM gene in a child with hydrocephalus

2021 ◽  
Vol 8 (4) ◽  
pp. 223-232
Author(s):  
Madhan Srinivasamurthy ◽  
◽  
Nagaraj Kakanahalli ◽  
Shreeshail V. Benakanal ◽  
Keyword(s):  
Nonsense Mutation ◽  
System Development ◽  
Novel Mutation ◽  
Pcr Primers ◽  
Nervous System Development ◽  
Specific Pcr ◽  
Truncation Mutation ◽  
Exon 9 ◽  
Immunoglobulin Domain ◽  
L1 Syndrome

<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>

L1 syndrome mutations impair neuronal L1 function at different levels by divergent mechanisms

2010 ◽  
Vol 40 (1) ◽  
pp. 222-237 ◽  
Author(s):  
Michael K.E. Schäfer ◽  
Yun-Chung Nam ◽  
Anice Moumen ◽  
Laura Keglowich ◽  
Elisabeth Bouché ◽  
...  
Keyword(s):  
L1 Syndrome ◽  
Different Levels

Molecular mechanisms and neuroimaging criteria for severe L1 syndrome with X-linked hydrocephalus

2006 ◽  
Vol 105 (5) ◽  
pp. 403-412 ◽  
Author(s):  
Yonehiro Kanemura ◽  
Nobuhiko Okamoto ◽  
Hiroaki Sakamoto ◽  
Tomoko Shofuda ◽  
Hiroyuki Kamiguchi ◽  
...  
Keyword(s):  
Molecular Mechanisms ◽  
L1 Syndrome

Clinical and genetic features of L1 syndrome patients: Definition of two novel mutations

2018 ◽  
Vol 172 ◽  
pp. 20-23 ◽  
Author(s):  
Esra Isik ◽  
Huseyin Onay ◽  
Tahir Atik ◽  
Bilcag Akgun ◽  
Ozgur Cogulu ◽  
...  
Keyword(s):  
Novel Mutations ◽  
Genetic Features ◽  
Definition Of ◽  
L1 Syndrome
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