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Prenatal molecular diagnosis of X ‐linked hydrocephalus via a silent C924T mutation in the L1CAM gene
Author(s) -
Serikawa Takehiro,
Nishiyama Kenichi,
Tohyama Jun,
Tazawa Ryushi,
Goto Kiyoe,
Kuriyama Yoko,
Haino Kazufumi,
Kanemura Yonehiro,
Yamasaki Mami,
Nakata Koh,
Takakuwa Koichi,
Enomoto Takayuki
Publication year - 2014
Publication title -
congenital anomalies
Language(s) - English
Resource type - Journals
eISSN - 1741-4520
pISSN - 0914-3505
DOI - 10.1111/cga.12069
Subject(s) - prenatal diagnosis , fetus , amniocentesis , mutation , medicine , pregnancy , ventriculomegaly , genetics , gene mutation , hydrocephalus , gene , biology , surgery
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 .