A novel L1CAM mutation with L1 spectrum disorders
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Dosyalar
Tarih
2005
Yazarlar
Dergi Başlığı
Dergi ISSN
Cilt Başlığı
Yayıncı
John Wiley & Sons Ltd
Erişim Hakkı
info:eu-repo/semantics/closedAccess
Özet
X-linked hydrocephalus, HSAS (hydrocephalus due to stenosis of aqueduct of Sylvius), MASA (mental retardation, aphasia, shuffling gait, and adducted thumbs), and CRASH (corpus callosum hypoplasia, retardation, adducted thumbs, spastic paraplegia, and hydrocephalus) syndromes are allelic disorders. X-linked hydrocephalus and associated phenotypes are due to mutations in the L1CAM gene, which has been identified as a coding neural cell adhesion molecule. We report two cases of L1 spectrum disorders within the same family. The first case was diagnosed by ultrasonographic examination prenatally and the second case was diagnosed postnatally. Both patients and their mothers carry a novel mutation of the L1CAM gene. In this family, nine X-linked hydrocephalus and five female carriers were found in three generations, and molecular genetic analysis was performed to detect the asymptomatic carriers.
Açıklama
Anahtar Kelimeler
Corpus Callosum Hypoplasia, L1CAM, L1 Spectrum, Prenatal Diagnosis, X-linked Hydrocephalus
Kaynak
Prenatal Diagnosis
WoS Q Değeri
Q2
Scopus Q Değeri
Q2
Cilt
25
Sayı
1
