Congenital mixed malignant germ cell tumor involving cerebrum and orbit

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Title:	Congenital mixed malignant germ cell tumor involving cerebrum and orbit
Authors:	Lee, JC;Jung, SM;Chao, AS;Hsueh, C
Contributors:	附設醫院婦產部;Chang Gung Childrens Hosp, Dept Pathol, Tao Yuan, Taiwan;China Med Coll Hosp, Dept Obstet & Gynecol, Taichung, Taiwan;Chang Gung Mem Hosp, Dept Obstet & Gynecol, Tao Yuan, Taiwan;Chang Gung Mem Hosp, Dept Pathol, Tao Yuan, Taiwan
Date:	2003
Issue Date:	2010-09-24 14:49:13 (UTC+8)
Publisher:	WALTER DE GRUYTER & CO
Abstract:	More than 90% of the cases of congenital adrenal hyperplasia are caused by mutations of the CYP21 gene. Approximately 75% of the defective CYP21 genes are generated through intergenic recombination, termed apparent gene conversion, from the neighboring CYP21P pseudogene. Among them, mutation of the aberrant splicing donor site of IVS2-12A/C>G at nucleotide (nt) 655 is believed to be a result derived from this mechanism and is the most prevalent case among all ethnic groups. However, mutation of 707-714delGAGACTAC rarely exists alone, although this locus is a distance of 53 nt away from IVS2-12A/C>G. From the molecular characterization of the mutation of IVS2-12A/C>G combined with 707-714del-GAGACTAC in patients with congenital adrenal hyperplasia, we found that it appeared to be in a 3.2- rather than a 3.7-kb fragment generated by Taq I digestion in a PCR product of the CYP21 gene. Interestingly, the 5' end region of such a CYP21 haplotype had CYP21P-specific sequences. Our results indicate that the coexistence of these two mutations is caused by deletion of the CYP21P, XA, RP2, and C4B genes and intergenic recombination in the C4-CYP21 repeat module. Surprisingly, this kind of the haplotype of the mutated CYP21 gene has not been reported as a gene deletion.
Relation:	JOURNAL OF PERINATAL MEDICINE 31(3):261-265
Appears in Collections:	[China Medical University Hospital] Jurnal articles

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