Clinical and molecular analysis of Mowat-Wilson syndrome associated with ZFHX1B mutations and deletions at 2q22-q24.1
نویسندگان
چکیده
منابع مشابه
Characterisation of deletions of the ZFHX1B region and genotype-phenotype analysis in Mowat-Wilson syndrome.
In 1998, Mowat et al 1 delineated a syndrome with Hirschsprung disease (HSCR) or severe constipation, microcephaly, mental retardation, and a distinctive facial appearance. Because two of the patients had a cytogenetically visible deletion of 2q22-q23, 2 and all patients were sporadic cases, a contiguous gene syndrome or a dominant single gene disorder involving this locus were suggested. Two s...
متن کاملNonsense mutations of the ZFHX1B gene in two Japanese girls with Mowat-Wilson syndrome.
Mowat-Wilson syndrome (MWS) is a multiple congenital anomaly-mental retardation complex caused by mutations in the Zinc Finger Homeobox 1 B gene (ZFHX1B). MWS has been reported in association with Hirschsprung disease (HSCR). MWS is sometimes difficult to diagnose clinically, especially when HSCR is absent. Thus, it is necessary to detect gene abnormalities at the molecular level. Here we repor...
متن کاملLETTERS TO JMG Characterisation of deletions of the ZFHX1B region and genotype-phenotype analysis in Mowat-Wilson syndrome
In 1998, Mowat et al 1 delineated a syndrome with Hirschsprung disease (HSCR) or severe constipation, microcephaly, mental retardation, and a distinctive facial appearance. Because two of the patients had a cytogenetically visible deletion of 2q22-q23, 2 and all patients were sporadic cases, a contiguous gene syndrome or a dominant single gene disorder involving this locus were suggested. Two s...
متن کاملMowat-Wilson syndrome.
Correspondence: Carlos Eduardo Steiner; Rua Tessália Vieira de Camargo, 126; 13083-887 Campinas SP; Brasil; E-mail: [email protected] Conflict of interest: There is no conflict of interest to declare. Received 11 November 2014 Accepted 01 December 2014 As medical specialties, Neurology, Psychiatry, and Clinical Genetics share many affinities, not only because 80% of the human genome is exp...
متن کاملMowat-Wilson syndrome
Mowat-Wilson syndrome (MWS) is a multiple congenital anomaly syndrome characterized by a distinct facial phenotype (high forehead, frontal bossing, large eyebrows, medially flaring and sparse in the middle part, hypertelorism, deep set but large eyes, large and uplifted ear lobes, with a central depression, saddle nose with prominent rounded nasal tip, prominent columella, open mouth, with M-sh...
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ژورنال
عنوان ژورنال: Journal of Medical Genetics
سال: 2004
ISSN: 1468-6244
DOI: 10.1136/jmg.2003.016154