X-linked Opitz G/BBB Syndrome: Identification of a Novel Mutation and Prenatal Diagnosis in a Korean Family.
10.3346/jkms.2006.21.5.790
- Author:
Hyun Jung CHO
1
;
Mee Yong SHIN
;
Kang Mo AHN
;
Sang Il LEE
;
Hee Jin KIM
;
Chang Seok KI
;
Jong Won KIM
Author Information
1. Department of Laboratory Medicine, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea. changski@skku.edu
- Publication Type:Original Article ; Research Support, Non-U.S. Gov't
- Keywords:
Genetic Diseases, X-Linked;
XLOS;
MID1;
Mutation;
Prenatal Diagnosis;
Abnormalities, Multiple
- MeSH:
Transcription Factors/*genetics;
Syndrome;
*Prenatal Diagnosis;
Nuclear Proteins/*genetics;
*Mutation;
Microtubule Proteins/*genetics;
Male;
Infant, Newborn;
Humans;
Genetic Diseases, X-Linked/*genetics;
Female;
Abnormalities, Multiple/diagnosis/*genetics
- From:Journal of Korean Medical Science
2006;21(5):790-793
- CountryRepublic of Korea
- Language:English
-
Abstract:
X-linked Opitz G/BBB syndrome (XLOS; MIM 300000) is a rare multiple congenital anomaly disorder that is characterized by facial anomalies, laryngeal/tracheal/esophageal defects and genitourinary abnormalities. XLOS is caused by mutations in the MID1 gene which encodes a microtubule-associated RING-Bbox-Coiled-coil (RBCC) protein. We recently found a four-year Korean male patient who was suspected of having XLOS. Mutation analysis of the MID1 gene in the patient and his mother demonstrated that the patient had a novel insertion mutation (c.1798_1799-insC), and his mother was a heterozygous carrier of the mutation. After identification of the causative mutation in this family, prenatal diagnosis of two consecutive fetuses were successfully undertaken. This is the first report on a genetically confirmed case of XLOS in Korea.
