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Whole-exome sequencing identifies homozygous mutation in TTI2 in a child with primary microcephaly: a case report

BACKGROUND: Primary microcephaly is defined as reduced occipital-frontal circumference noticeable before 36 weeks of gestation. Large amount of insults might lead to microcephaly including infections, hypoxia and genetic mutations. More than 16 genes are described in autosomal recessive primary micr...

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Autores principales: Picher-Martel, Vincent, Labrie, Yvan, Rivest, Serge, Lace, Baiba, Chrestian, Nicolas
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7023720/
https://www.ncbi.nlm.nih.gov/pubmed/32061250
http://dx.doi.org/10.1186/s12883-020-01643-1
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author Picher-Martel, Vincent
Labrie, Yvan
Rivest, Serge
Lace, Baiba
Chrestian, Nicolas
author_facet Picher-Martel, Vincent
Labrie, Yvan
Rivest, Serge
Lace, Baiba
Chrestian, Nicolas
author_sort Picher-Martel, Vincent
collection PubMed
description BACKGROUND: Primary microcephaly is defined as reduced occipital-frontal circumference noticeable before 36 weeks of gestation. Large amount of insults might lead to microcephaly including infections, hypoxia and genetic mutations. More than 16 genes are described in autosomal recessive primary microcephaly. However, the cause of microcephaly remains unclear in many cases after extensive investigations and genetic screening. CASE PRESENTATION: Here, we described the case of a boy with primary microcephaly who presented to a neurology clinic with short stature, global development delay, dyskinetic movement, strabismus and dysmorphic features. We performed microcephaly investigations and genetic panels. Then, we performed whole-exome sequencing to identify any genetic cause. Microcephaly investigations and genetic panels were negative, but we found a new D317V homozygous mutation in TELOE-2 interacting protein 2 (TTI2) gene by whole-exome sequencing. TTI2 is implicated in DNA damage response and mutation in that gene was previously described in mental retardation, autosomal recessive 39. CONCLUSIONS: We described the first French Canadian case with primary microcephaly and global developmental delay secondary to a new D317V homozygous mutation in TTI2 gene. Our report also highlights the importance of TTI2 protein in brain development.
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spelling pubmed-70237202020-02-20 Whole-exome sequencing identifies homozygous mutation in TTI2 in a child with primary microcephaly: a case report Picher-Martel, Vincent Labrie, Yvan Rivest, Serge Lace, Baiba Chrestian, Nicolas BMC Neurol Case Report BACKGROUND: Primary microcephaly is defined as reduced occipital-frontal circumference noticeable before 36 weeks of gestation. Large amount of insults might lead to microcephaly including infections, hypoxia and genetic mutations. More than 16 genes are described in autosomal recessive primary microcephaly. However, the cause of microcephaly remains unclear in many cases after extensive investigations and genetic screening. CASE PRESENTATION: Here, we described the case of a boy with primary microcephaly who presented to a neurology clinic with short stature, global development delay, dyskinetic movement, strabismus and dysmorphic features. We performed microcephaly investigations and genetic panels. Then, we performed whole-exome sequencing to identify any genetic cause. Microcephaly investigations and genetic panels were negative, but we found a new D317V homozygous mutation in TELOE-2 interacting protein 2 (TTI2) gene by whole-exome sequencing. TTI2 is implicated in DNA damage response and mutation in that gene was previously described in mental retardation, autosomal recessive 39. CONCLUSIONS: We described the first French Canadian case with primary microcephaly and global developmental delay secondary to a new D317V homozygous mutation in TTI2 gene. Our report also highlights the importance of TTI2 protein in brain development. BioMed Central 2020-02-15 /pmc/articles/PMC7023720/ /pubmed/32061250 http://dx.doi.org/10.1186/s12883-020-01643-1 Text en © The Author(s) 2020 Open Access This article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.
spellingShingle Case Report
Picher-Martel, Vincent
Labrie, Yvan
Rivest, Serge
Lace, Baiba
Chrestian, Nicolas
Whole-exome sequencing identifies homozygous mutation in TTI2 in a child with primary microcephaly: a case report
title Whole-exome sequencing identifies homozygous mutation in TTI2 in a child with primary microcephaly: a case report
title_full Whole-exome sequencing identifies homozygous mutation in TTI2 in a child with primary microcephaly: a case report
title_fullStr Whole-exome sequencing identifies homozygous mutation in TTI2 in a child with primary microcephaly: a case report
title_full_unstemmed Whole-exome sequencing identifies homozygous mutation in TTI2 in a child with primary microcephaly: a case report
title_short Whole-exome sequencing identifies homozygous mutation in TTI2 in a child with primary microcephaly: a case report
title_sort whole-exome sequencing identifies homozygous mutation in tti2 in a child with primary microcephaly: a case report
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7023720/
https://www.ncbi.nlm.nih.gov/pubmed/32061250
http://dx.doi.org/10.1186/s12883-020-01643-1
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