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  • Title: [Analysis of a case with Mowat-Wilson syndrome due to nonsense variant of ZEB2 gene].
    Author: She M, Zhao Z, Shi P, Gao S, Kong X.
    Journal: Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2022 Aug 10; 39(8):889-892. PubMed ID: 35929943.
    Abstract:
    OBJECTIVE: To explore the genetic basis for a girl with distinctive facial features, epilepsy, intellectual disability, chronic constipation and hypopigmentation of neck and upper extremities. METHODS: Whole exome sequencing was carried out for the proband. Candidate variant was verified by Sanger sequencing. RESULTS: The proband was found to harbor a heterozygous nonsense c.586G>T (p.Glu196*) variant of the ZEB2 gene, which was unreported previously. The variant was not detected in either parent. CONCLUSION: The ZEB2 gene c.586G>T (p.Glu196*) variant probably underlay the Mowat-Wilson syndrome in this patient. Hypopigmentation in the neck and upper extremities may be related to Mowat-Wilson syndrome. Prenatal diagnosis was recommended for subsequent pregnancies.
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