title: Prenatal molecular diagnosis of X-linked hydrocephalus via a silent C924T mutation in the L1CAM gene.
abstract: We present a case of a patient whose L1CAM gene in X-chromosome has a C924T transition. Her first son's ventriculomegaly was prenatally detected. A mature infant was born, his head circumference was large, and thumbs were bilaterally adducted. X-linked hydrocephalus (XLH) was suspected. The DNA examination revealed that both her and boy's LICAM gene had a C924T transition. She became pregnant 5 years later and amniocentesis was performed. The results of cytogenetic analysis revealed that the fetus was female. She continued her pregnancy and delivered a healthy girl. She again became pregnant 3 years later. The chromosomal analysis revealed that the fetus was male. Fetal DNA analysis determined that the fetus had the inherited mutation. She chose to terminate the pregnancy. A C924T mutation can be disease causing for XLH, and the detection of this mutation would aid in genetic counseling for the prenatal diagnosis of XLH.
authors.affiliation: Department of Obstetrics and Gynecology, Niigata University Medical and Dental Hospital, Niigata, Japan.
authors.forename: Takehiro
authors.initials: T
authors.lastname: Serikawa
authors.forename: Kenichi
authors.initials: K
authors.lastname: Nishiyama
authors.forename: Jun
authors.initials: J
authors.lastname: Tohyama
authors.forename: Ryushi
authors.initials: R
authors.lastname: Tazawa
authors.forename: Kiyoe
authors.initials: K
authors.lastname: Goto
authors.forename: Yoko
authors.initials: Y
authors.lastname: Kuriyama
authors.forename: Kazufumi
authors.initials: K
authors.lastname: Haino
authors.forename: Yonehiro
authors.initials: Y
authors.lastname: Kanemura
authors.forename: Mami
authors.initials: M
authors.lastname: Yamasaki
authors.forename: Koh
authors.initials: K
authors.lastname: Nakata
authors.forename: Koichi
authors.initials: K
authors.lastname: Takakuwa
authors.forename: Takayuki
authors.initials: T
authors.lastname: Enomoto
mesh_terms: D000328:Adult; D002535:Cerebral Aqueduct / Q000002:abnormalities*; D005260:Female; D040181:Genetic Diseases, X-Linked / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D006849:Hydrocephalus / Q000175:diagnosis* / Q000235:genetics; D007223:Infant; D008297:Male; D009154:Mutation; D039842:Neural Cell Adhesion Molecule L1 / Q000235:genetics*; D057089:Pathology, Molecular; D010375:Pedigree; D011247:Pregnancy; D011296:Prenatal Diagnosis
chemical_list: D039842:Neural Cell Adhesion Molecule L1
keywords: L1CAM gene; X-linked hydrocephalus; prenatal diagnosis; silent mutation