A missense mutation in the ZFHX1B gene associated with an atypical Mowat-Wilson syndrome phenotype

被引:33
作者
Heinritz, Wolfram
Zweier, Christiane
Froster, Ursula G.
Strenge, Sibylle
Kujat, Annegret
Syrbe, Steffen
Rauch, Anita
Schuster, Volker
机构
[1] Univ Leipzig, Inst Human Genet, Fac Med, D-04103 Leipzig, Germany
[2] Univ Erlangen Nurnberg, Inst Human Genet, D-8520 Erlangen, Germany
[3] Univ Leipzig, Hosp Children & Adolescents, Fac Med, D-7010 Leipzig, Germany
关键词
Mowat-Wilson syndrome; Hirsclisprung disease; ZFHX1B gene; missense mutation;
D O I
10.1002/ajmg.a.31267
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
Mowat-Wilson syndrome (MWS) is a rare mental retardation-multiple congenital anomalies syndrome associated with typical facial dysmorphism. Patients can show a variety of other anomalies like short stature, microcephaly, Hirschsprung disease, malformations of the brain, seizures, congenital heart defects and urogenital anomalies. Mutations leading to haploinsufficiency of the ZFHX1B gene have been described as the underlying cause of this condition. We report on the clinical findings in a 21/2-year-old boy with some aspects out of the MWS-spectrum in addition to unusual anomalies and a novel missense mutation in the ZFHX1B gene. (c) 2006 Wiley-Liss, Inc.
引用
收藏
页码:1223 / 1227
页数:5
相关论文
共 16 条
[1]   Large-scale deletions and SMADIP1 truncating mutations in syndromic hirschsprung disease with involvement of midline structures [J].
Amiel, J ;
Espinosa-Parrilla, Y ;
Steffann, J ;
Gosset, P ;
Pelet, A ;
Prieur, M ;
Boute, O ;
Choiset, A ;
Lacombe, D ;
Philip, N ;
Le Merrer, M ;
Tanaka, H ;
Till, M ;
Touraine, R ;
Toutain, A ;
Vekemans, M ;
Munnich, A ;
Lyonnet, S .
AMERICAN JOURNAL OF HUMAN GENETICS, 2001, 69 (06) :1370-1377
[2]   Pleiotropic and diverse expression of ZFHX1B gene transcripts during mouse and human development supports the various clinical manifestations of the "Mowat-Wilson" syndrome [J].
Bassez, G ;
Camand, OJA ;
Cacheux, V ;
Kobetz, A ;
Moal, FDL ;
Marchant, D ;
Catala, M ;
Abitbol, M ;
Goossens, M .
NEUROBIOLOGY OF DISEASE, 2004, 15 (02) :240-250
[3]   Loss-of-function mutations in SIP1 Smad interacting protein 1 result in a syndromic Hirschsprung disease [J].
Cacheux, V ;
Dastot-Le Moal, F ;
Kääriäinen, H ;
Bondurand, N ;
Rintala, R ;
Boissier, B ;
Wilson, M ;
Mowat, D ;
Goossens, M .
HUMAN MOLECULAR GENETICS, 2001, 10 (14) :1503-1510
[4]   Expression of the SMADIP1 gene during early human development [J].
Espinosa-Parrilla, Y ;
Amiel, J ;
Augé, J ;
Encha-Razavi, F ;
Munnich, A ;
Lyonnet, S ;
Vekemans, M ;
Attié-Bitach, T .
MECHANISMS OF DEVELOPMENT, 2002, 114 (1-2) :187-191
[5]   Ocular coloboma and high myopia with Hirschsprung disease associated with a novel ZFHX1B missense mutation and trisomy 21 [J].
Gregory-Evans, CY ;
Vieira, H ;
Dalton, R ;
Adams, GGW ;
Salt, A ;
Gregory-Evans, K .
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2004, 131A (01) :86-90
[6]   Clinical and molecular analysis of Mowat-Wilson syndrome associated with ZFHX1B mutations and deletions at 2q22-q24.1 [J].
Ishihara, N ;
Yamada, K ;
Yamada, Y ;
Miura, K ;
Kato, J ;
Kuwabara, N ;
Hara, Y ;
Kobayashi, Y ;
Hoshino, K ;
Nomura, Y ;
Mimaki, M ;
Ohya, K ;
Matsushima, M ;
Nitta, H ;
Tanaka, K ;
Segawa, M ;
Ohki, T ;
Ezoe, T ;
Kumagai, T ;
Onuma, A ;
Kuroda, T ;
Yoneda, M ;
Yamanaka, T ;
Saeki, M ;
Segawa, M ;
Saji, T ;
Nagaya, M ;
Wakamatsu, N .
JOURNAL OF MEDICAL GENETICS, 2004, 41 (05) :387-393
[7]   Recurrence of Mowat-Wilson syndrome in siblings with the same proven mutation [J].
McGaughran, J ;
Sinnott, S ;
Dastot-Le Moal, F ;
Wilson, M ;
Mowat, D ;
Sutton, B ;
Goossens, M .
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2005, 137A (03) :302-304
[8]   Mowat-Wilson syndrome [J].
Mowat, DR ;
Wilson, MJ ;
Goossens, M .
JOURNAL OF MEDICAL GENETICS, 2003, 40 (05) :305-310
[9]   Hirschsprung disease, microcephaly, mental retardation, and characteristic facial features:: Delineation of a new syndrome and identification of a locus at chromosome 2q22-q23 [J].
Mowat, DR ;
Croaker, GDH ;
Cass, DT ;
Kerr, BA ;
Chaitow, J ;
Adís, LC ;
Chia, NL ;
Wilson, MJ .
JOURNAL OF MEDICAL GENETICS, 1998, 35 (08) :617-623
[10]   Mutations in SIP1, encoding Smad interacting protein-1, cause a form of Hirschsprung disease [J].
Wakamatsu, N ;
Yamada, Y ;
Yamada, K ;
Ono, T ;
Nomura, N ;
Taniguchi, H ;
Kitoh, H ;
Mutoh, N ;
Yamanaka, T ;
Mushiake, K ;
Kato, K ;
Sonta, S ;
Nagaya, M .
NATURE GENETICS, 2001, 27 (04) :369-370