13q13.3 microdeletion associated with apparently balanced translocation of 46,XX,t(7;13) suggests NBEA involvement.
Carrier Proteins
/ metabolism
Child, Preschool
Chromosome Deletion
Chromosome Disorders
/ genetics
Chromosomes, Human, Pair 13
/ genetics
Craniofacial Abnormalities
/ genetics
Female
Humans
In Situ Hybridization, Fluorescence
/ methods
Intellectual Disability
/ genetics
Nerve Tissue Proteins
/ metabolism
Neurodevelopmental Disorders
/ genetics
Psychomotor Disorders
Translocation, Genetic
13q13.3 microdeletion
Apparently balanced chromosomal translocation
Intellectual disability
Neurodevelopmental disorder
array-Comparative Genomic Hybridization (a-CGH)
Journal
Brain & development
ISSN: 1872-7131
Titre abrégé: Brain Dev
Pays: Netherlands
ID NLM: 7909235
Informations de publication
Date de publication:
Sep 2020
Sep 2020
Historique:
received:
05
09
2019
revised:
06
03
2020
accepted:
17
05
2020
pubmed:
9
6
2020
medline:
5
5
2021
entrez:
9
6
2020
Statut:
ppublish
Résumé
Deletion of 13q13.3 is an extremely rare event. We report on a 25-month-old girl with neurodevelopmental disorder and intellectual disability. She had dysmorphic facies characterized by synophrys, long and narrow palpebral fissures; and a large, round face with small organs such as the eyes and mouth positioned near the center. She was hypotonic and had autism-like behaviors. Blood tests and brain MRI revealed no specific findings. However, G-banding chromosome analysis showed an apparently balanced translocation: 46,XX,t(7,13)(q11.23;q12.3). Both parents had normal karyotypes. Furthermore, her abnormal phenotype and chromosomal breakpoint lesion were suspected to be associated. Hence, we conducted array comparative genomic hybridization, which revealed a 3.2 Mb novel pathological microdeletion at 13q13.3 involving 17 genes including neurobeachin (NBEA), a neurodevelopment disorder gene. Furthermore, fluorescence in situ hybridization using probes adjacent to the microdeletion suggested a concomitant occurrence of the deletion and translocation as the structural basis of this rare genomic variant. NBEA may have roles in her neurodevelopmental phenotypes, whereas other genes within the 13q13.3 microdeletion may contribute to her dysmorphic features.
Sections du résumé
BACKGROUND
BACKGROUND
Deletion of 13q13.3 is an extremely rare event.
CASE
METHODS
We report on a 25-month-old girl with neurodevelopmental disorder and intellectual disability. She had dysmorphic facies characterized by synophrys, long and narrow palpebral fissures; and a large, round face with small organs such as the eyes and mouth positioned near the center. She was hypotonic and had autism-like behaviors. Blood tests and brain MRI revealed no specific findings. However, G-banding chromosome analysis showed an apparently balanced translocation: 46,XX,t(7,13)(q11.23;q12.3). Both parents had normal karyotypes. Furthermore, her abnormal phenotype and chromosomal breakpoint lesion were suspected to be associated. Hence, we conducted array comparative genomic hybridization, which revealed a 3.2 Mb novel pathological microdeletion at 13q13.3 involving 17 genes including neurobeachin (NBEA), a neurodevelopment disorder gene. Furthermore, fluorescence in situ hybridization using probes adjacent to the microdeletion suggested a concomitant occurrence of the deletion and translocation as the structural basis of this rare genomic variant.
CONCLUSION
CONCLUSIONS
NBEA may have roles in her neurodevelopmental phenotypes, whereas other genes within the 13q13.3 microdeletion may contribute to her dysmorphic features.
Identifiants
pubmed: 32507666
pii: S0387-7604(20)30147-9
doi: 10.1016/j.braindev.2020.05.006
pii:
doi:
Substances chimiques
Carrier Proteins
0
NBEA protein, human
0
Nerve Tissue Proteins
0
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
581-586Informations de copyright
Copyright © 2020 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.