Novel double-deletion mutations of the OFD1 gene creating multiple novel transcripts

被引:15
作者
Morisawa, T
Yagi, M
Surono, A
Yokoyama, N
Ohmori, M
Terashi, H
Matsuo, M
机构
[1] Kobe Univ, Grad Sch Med, Dept Pediat, Chuo Ku, Kobe, Hyogo 6500017, Japan
[2] Kobe Univ, Grad Sch Med, Dept Plast Surg, Chuo Ku, Kobe, Hyogo 6500017, Japan
关键词
D O I
10.1007/s00439-004-1139-1
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
Oral-facial-digital syndrome type 1 (OFD1) is an X-linked dominant disease characterized by malformations of the face, oral cavity, and digits. Thus far, 18 small mutations in the OFD1 gene have been reported. Here, we describe, in one Japanese sporadic female OFD1 case, the presence of a novel pair of deletion mutations: a 4,094-bp deletion encompassing exon 7 to intron 9, and a 14-bp deletion in intron 9, both of which are present in her paternal X-chromosome. The first deletion, the largest known to affect OFD1, was revealed by identifying four novel transcripts that all lacked exons 7-9. The most likely cause of the double deletion is two unequal recombinations between homologous sequences. Identification of the 4,094-bp deletion was made possible only by analyzing OFD1 mRNA, underscoring the utility of mRNA analysis in the mutational analysis of OFD1.
引用
收藏
页码:97 / 103
页数:7
相关论文
共 35 条
[1]   A recurrent deletion in the ubiquitously expressed NEMO (IKK-γ) gene accounts for the vast majority of incontinentia pigmenti mutations [J].
Aradhya, S ;
Woffendin, H ;
Jakins, T ;
Bardaro, T ;
Esposito, T ;
Smahi, A ;
Shaw, C ;
Levy, M ;
Munnich, A ;
D'Urso, M ;
Lewis, RA ;
Kenwrick, S ;
Nelson, DL .
HUMAN MOLECULAR GENETICS, 2001, 10 (19) :2171-2179
[2]   Diagnostic testing for Rett syndrome by DHPLC and direct sequencing analysis of the MECP2 gene:: Identification of several novel mutations and polymorphisms [J].
Buyse, IM ;
Fang, P ;
Hoon, KT ;
Amir, RE ;
Zoghbi, HY ;
Roa, BB .
AMERICAN JOURNAL OF HUMAN GENETICS, 2000, 67 (06) :1428-1436
[3]   OROFACIODIGITAL SYNDROME TYPE-I ASSOCIATED WITH POLYCYSTIC KIDNEYS AND AGENESIS OF THE CORPUS-CALLOSUM [J].
CONNACHER, AA ;
FORSYTH, CC ;
STEWART, WK .
JOURNAL OF MEDICAL GENETICS, 1987, 24 (02) :116-118
[4]   Characterization of Cxorf5 (71-7A), a novel human cDNA mapping to Xp22 and encoding a protein containing coiled-coil α-helical domains [J].
de Conciliis, L ;
Marchitiello, A ;
Wapenaar, MC ;
Borsani, G ;
Giglio, S ;
Mariani, M ;
Consalez, GG ;
Zuffardi, O ;
Franco, B ;
Ballabio, A ;
Banfi, S .
GENOMICS, 1998, 51 (02) :243-250
[5]   A novel mutation in the neurofibromatosis type 1 (NF1) gene promotes skipping of two exons by preventing exon definition [J].
Fang, LJ ;
Simard, MJ ;
Vidaud, D ;
Assouline, B ;
Lemieux, B ;
Vidaud, M ;
Chabot, B ;
Thirion, JP .
JOURNAL OF MOLECULAR BIOLOGY, 2001, 307 (05) :1261-1270
[6]   The oral-facial-digital syndrome type 1 (OFD1), a cause of polycystic kidney disease and associated malformations, maps to Xp22.2-Xp22.3 [J].
Feather, SA ;
Woolf, AS ;
Donnai, D ;
Malcolm, S ;
Winter, RM .
HUMAN MOLECULAR GENETICS, 1997, 6 (07) :1163-1167
[7]   Identification of the gene for oral-facial-digital type I syndrome [J].
Ferrante, MI ;
Giorgio, G ;
Feather, SA ;
Bulfone, A ;
Wright, V ;
Ghiani, M ;
Selicorni, A ;
Gammaro, L ;
Scolari, F ;
Woolf, AS ;
Sylvie, O ;
Bernard, LM ;
Malcolm, S ;
Winter, R ;
Ballabio, A ;
Franco, B .
AMERICAN JOURNAL OF HUMAN GENETICS, 2001, 68 (03) :569-576
[8]  
Gedeon AK, 1999, AM J MED GENET, V82, P352, DOI 10.1002/(SICI)1096-8628(19990212)82:4<352::AID-AJMG15>3.3.CO
[9]  
2-7
[10]   Parental origin of de novo MECP2 mutations in Rett syndrome [J].
Girard, M ;
Couvert, P ;
Carrié, A ;
Tardieu, M ;
Chelly, J ;
Beldjord, C ;
Bienvenu, T .
EUROPEAN JOURNAL OF HUMAN GENETICS, 2001, 9 (03) :231-236