Trio-Based Whole-Exome Sequencing Identifies a De novo EFNB1 Mutation as a Genetic Cause in Female Infant With Brain Anomaly and Developmental Delay
Background: Craniofrontonasal syndrome is a rare, X-linked disorder in which heterozygous females ironically reported the majority of patients and is caused by in the EFNB1 gene located at chromosome Xq13.1. Unlike previous reports, we present a female infant with a de novo EFNB1 missense mutation t...
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Frontiers Media S.A.
2020-09-01
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| Series: | Frontiers in Pediatrics |
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| Online Access: | https://www.frontiersin.org/article/10.3389/fped.2020.00461/full |
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doaj-bdcc116234d243a7b0a047bed4d87a2e2020-11-25T03:48:50ZengFrontiers Media S.A.Frontiers in Pediatrics2296-23602020-09-01810.3389/fped.2020.00461559719Trio-Based Whole-Exome Sequencing Identifies a De novo EFNB1 Mutation as a Genetic Cause in Female Infant With Brain Anomaly and Developmental DelayJi Yoon Han0Hyun Jeong Kim1Ja Hyun Jang2In Goo Lee3Joonhong Park4Joonhong Park5Department of Pediatrics, College of Medicine, Catholic University of Korea, Seoul, South KoreaDepartment of Radiology, College of Medicine, The Catholic University of Korea, Seoul, South KoreaDepartment of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, South KoreaDepartment of Pediatrics, College of Medicine, Catholic University of Korea, Seoul, South KoreaDepartment of Laboratory Medicine, College of Medicine, Catholic University of Korea, Seoul, South KoreaDepartment of Laboratory Medicine, Jeonbuk National University Medical School and Hospital, Jeonju, South KoreaBackground: Craniofrontonasal syndrome is a rare, X-linked disorder in which heterozygous females ironically reported the majority of patients and is caused by in the EFNB1 gene located at chromosome Xq13.1. Unlike previous reports, we present a female infant with a de novo EFNB1 missense mutation that was demonstrated in clinical diagnosis as global developmental delay (GDD) and brain anomaly without frontonasal dysplasia or other malformation.Case Presentation: This study reports the genetic analysis of a 4-month-old female infant presenting brain anomaly and GDD. She was the only child of unrelated parents. Early developmental was characterized by delays in fine motor, achieving gross motor, language, and social–cognitive milestones. She could not control her head or hold objects until 4 months of age. Brain magnetic resonance imaging revealed schizencephaly and dysgenesis of corpus callosum. Trio-based whole-exome sequencing revealed a heterozygous c.943C>T (p.Pro315Ser) in the EFNB1. Sanger sequencing confirmed this heterozygous alteration occurring in a dominant de novo manner, as a consequence of phenotypic and genotypic wild type in both parents.Conclusion:EFNB1 mutation is considered for a child with schizencephaly, and further study focusing on phenotyping is required to understand the possible contribution of environmental impact and genetic modifier in the expression of EFNB1.https://www.frontiersin.org/article/10.3389/fped.2020.00461/fulltrio exome sequencingEFNB1 mutationschizencephalyglobal developmental delaycraniofrontonasal dysplasia |
| collection |
DOAJ |
| language |
English |
| format |
Article |
| sources |
DOAJ |
| author |
Ji Yoon Han Hyun Jeong Kim Ja Hyun Jang In Goo Lee Joonhong Park Joonhong Park |
| spellingShingle |
Ji Yoon Han Hyun Jeong Kim Ja Hyun Jang In Goo Lee Joonhong Park Joonhong Park Trio-Based Whole-Exome Sequencing Identifies a De novo EFNB1 Mutation as a Genetic Cause in Female Infant With Brain Anomaly and Developmental Delay Frontiers in Pediatrics trio exome sequencing EFNB1 mutation schizencephaly global developmental delay craniofrontonasal dysplasia |
| author_facet |
Ji Yoon Han Hyun Jeong Kim Ja Hyun Jang In Goo Lee Joonhong Park Joonhong Park |
| author_sort |
Ji Yoon Han |
| title |
Trio-Based Whole-Exome Sequencing Identifies a De novo EFNB1 Mutation as a Genetic Cause in Female Infant With Brain Anomaly and Developmental Delay |
| title_short |
Trio-Based Whole-Exome Sequencing Identifies a De novo EFNB1 Mutation as a Genetic Cause in Female Infant With Brain Anomaly and Developmental Delay |
| title_full |
Trio-Based Whole-Exome Sequencing Identifies a De novo EFNB1 Mutation as a Genetic Cause in Female Infant With Brain Anomaly and Developmental Delay |
| title_fullStr |
Trio-Based Whole-Exome Sequencing Identifies a De novo EFNB1 Mutation as a Genetic Cause in Female Infant With Brain Anomaly and Developmental Delay |
| title_full_unstemmed |
Trio-Based Whole-Exome Sequencing Identifies a De novo EFNB1 Mutation as a Genetic Cause in Female Infant With Brain Anomaly and Developmental Delay |
| title_sort |
trio-based whole-exome sequencing identifies a de novo efnb1 mutation as a genetic cause in female infant with brain anomaly and developmental delay |
| publisher |
Frontiers Media S.A. |
| series |
Frontiers in Pediatrics |
| issn |
2296-2360 |
| publishDate |
2020-09-01 |
| description |
Background: Craniofrontonasal syndrome is a rare, X-linked disorder in which heterozygous females ironically reported the majority of patients and is caused by in the EFNB1 gene located at chromosome Xq13.1. Unlike previous reports, we present a female infant with a de novo EFNB1 missense mutation that was demonstrated in clinical diagnosis as global developmental delay (GDD) and brain anomaly without frontonasal dysplasia or other malformation.Case Presentation: This study reports the genetic analysis of a 4-month-old female infant presenting brain anomaly and GDD. She was the only child of unrelated parents. Early developmental was characterized by delays in fine motor, achieving gross motor, language, and social–cognitive milestones. She could not control her head or hold objects until 4 months of age. Brain magnetic resonance imaging revealed schizencephaly and dysgenesis of corpus callosum. Trio-based whole-exome sequencing revealed a heterozygous c.943C>T (p.Pro315Ser) in the EFNB1. Sanger sequencing confirmed this heterozygous alteration occurring in a dominant de novo manner, as a consequence of phenotypic and genotypic wild type in both parents.Conclusion:EFNB1 mutation is considered for a child with schizencephaly, and further study focusing on phenotyping is required to understand the possible contribution of environmental impact and genetic modifier in the expression of EFNB1. |
| topic |
trio exome sequencing EFNB1 mutation schizencephaly global developmental delay craniofrontonasal dysplasia |
| url |
https://www.frontiersin.org/article/10.3389/fped.2020.00461/full |
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