TY - JOUR
T1 - Mowat-Wilson syndrome
T2 - Clinical and molecular report of the first case in mainland China
AU - Jiang, Qian
AU - Zhang, Tao
AU - Wang, Shuo
AU - Xiao, Ping
AU - Zhang, Zhen
AU - Ma, Yinan
AU - Cheng, Wei
AU - Su, Lin
AU - Pan, Hong
AU - Li, Qi
AU - Li, Long
N1 - Funding Information:
We are grateful to the patient and her parents for agreeing to participate in this study. This study was supported by grants from the National Natural Science Foundation of China (No. 81170335) to Long Li, the Beijing Natural Science Foundation (No. 7154185) to Qi Li and the National Natural Science Foundation of China (No. 81300266), the Beijing Natural Science Foundation (No. 7142029), the Beijing Excellent Scientist Fund (No. 2013D003034- 000007) and Beijing Novo Program (Z151100-000315091) to Qian Jiang. The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.
PY - 2016
Y1 - 2016
N2 - Mowat-Wilson syndrome (MWS, MIM #235730) is a rare genetic disorder characterized by moderate-to-severe mental retardation, a recognizable facial gestalt and multiple congenital anomalies. The striking facial phenotype in addition to other features such as microcephaly, congenital heart defects, Hirschsprung disease (HSCR), severely delayed motor/speech development, seizures, short stature, corpus callosum agenesis and hypospadias are particularly important clues for the initial clinical diagnosis. All molecularly confirmed cases with typical MWS have a heterozygous loss-of-function mutation in the ZEB2 (zinc finger E-box binding homeobox 2) gene, suggesting that haploinsufficiency of the protein is the main pathological mechanism. Here, we report the first individual with MWS in mainland China confirmed by molecular genetic testing. A 1-day-old girl was referred to the department of surgery for abdominal distension and failure to pass meconium. Targeted exome sequencing revealed a de novo heterozygous nonsense mutation (p.Arg302X) in ZEB2 in the patient. Medical record review revealed mild facial gestalt, HSCR and severe congenital heart defects supporting the diagnosis of MWS. We concluded that facial dysmorphism in newborn babies might be atypical; doctors should pay more attention during physical examination and be aware of MWS if multiple congenital defects were discovered. ZEB2 gene mutation screening would be an effective manner to clarify the diagnosis.
AB - Mowat-Wilson syndrome (MWS, MIM #235730) is a rare genetic disorder characterized by moderate-to-severe mental retardation, a recognizable facial gestalt and multiple congenital anomalies. The striking facial phenotype in addition to other features such as microcephaly, congenital heart defects, Hirschsprung disease (HSCR), severely delayed motor/speech development, seizures, short stature, corpus callosum agenesis and hypospadias are particularly important clues for the initial clinical diagnosis. All molecularly confirmed cases with typical MWS have a heterozygous loss-of-function mutation in the ZEB2 (zinc finger E-box binding homeobox 2) gene, suggesting that haploinsufficiency of the protein is the main pathological mechanism. Here, we report the first individual with MWS in mainland China confirmed by molecular genetic testing. A 1-day-old girl was referred to the department of surgery for abdominal distension and failure to pass meconium. Targeted exome sequencing revealed a de novo heterozygous nonsense mutation (p.Arg302X) in ZEB2 in the patient. Medical record review revealed mild facial gestalt, HSCR and severe congenital heart defects supporting the diagnosis of MWS. We concluded that facial dysmorphism in newborn babies might be atypical; doctors should pay more attention during physical examination and be aware of MWS if multiple congenital defects were discovered. ZEB2 gene mutation screening would be an effective manner to clarify the diagnosis.
KW - Chinese
KW - Mowat-Wilson syndrome
KW - Nonsense mutation
KW - Targeted exome sequencing
KW - ZEB2 gene
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M3 - Article
AN - SCOPUS:84967144022
VL - 9
SP - 1195
EP - 1203
JO - International Journal of Clinical and Experimental Pathology
JF - International Journal of Clinical and Experimental Pathology
SN - 1936-2625
IS - 2
ER -