Search results for " HSAS"

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A novel L1CAM mutation in a fetus detected by prenatal diagnosis

2010

X-linked hydrocephalus is due to mutations in the L1 neuronal cell adhesion molecule (L1CAM) gene. L1 protein plays a key role in neurite outgrowth, axonal guidance, and pathfinding during the development of the nervous system. We report on a familial case diagnosed by prenatal ultrasonographic examination, with cerebellar hypoplasia, agenesis of the corpus callosum, and the bilateral overlapping of the second and third fingers of the hand. Sequencing of the L1CAM gene showed a novel missense mutation in exon 14: transition of a guanine to cytosine at position 1777 (c.1777G > C), which led to an amino acid change of alanine to proline at position 593 (Ala593Pro) in the sixth immunoglobulin …

Adultmedicine.medical_specialtyPathologyL1Neural Cell Adhesion Molecule L1Prenatal diagnosismedicine.disease_causeL1CAM L1-desease prenatal diagnosis hydrocephalus HSAS CRASH syndromeExonSettore MED/38 - Pediatria Generale E SpecialisticaPregnancyPrenatal DiagnosisInternal medicinemedicineHumansPoint MutationMissense mutationAgenesis of the corpus callosumUltrasonographyMutationbusiness.industrymedicine.diseasePedigreeFetal DiseasesEndocrinologyKaryotypingPediatrics Perinatology and Child HealthFemaleNeural cell adhesion moleculeCerebellar hypoplasia (non-human)businessHydrocephalus
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