Abstract
Confirmatory Sanger sequencing of whole exome sequencing first identified a somatic and germline FOXP3 mosaicism with two different mutational events of c.210 + 1G > T and c.210 + 1G > A in the mother of a boy with IPEX syndrome.
Keywords:
FOXP3; IPEX syndrome; Mosaicism; Sanger sequencing; Whole exome sequencing.
© 2018 WILEY-VCH Verlag GmbH & Co. KGaA, Weinheim.
Publication types
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Case Reports
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Letter
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Research Support, Non-U.S. Gov't
MeSH terms
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Base Sequence
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Child
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Child, Preschool
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Diabetes Mellitus, Type 1 / congenital*
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Diabetes Mellitus, Type 1 / diagnosis
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Diabetes Mellitus, Type 1 / genetics
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Diarrhea / diagnosis
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Diarrhea / genetics*
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Female
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Forkhead Transcription Factors / genetics*
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Genetic Diseases, X-Linked / diagnosis
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Genetic Diseases, X-Linked / genetics*
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Germ-Line Mutation / genetics*
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Humans
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Immune System Diseases / congenital*
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Immune System Diseases / diagnosis
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Immune System Diseases / genetics
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Male
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Mosaicism
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Mothers
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Sequence Analysis, DNA
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T-Lymphocytes, Regulatory / cytology
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T-Lymphocytes, Regulatory / immunology
Substances
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FOXP3 protein, human
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Forkhead Transcription Factors
Supplementary concepts
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Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-Linked Syndrome