Confirmation and expansion of the phenotype of the TCEAL1-related neurodevelopmental disorder
Numerous contiguous gene deletion syndromes causing neurodevelopmental disorders have previously been defined using cytogenetics for which only in the current genomic era the disease-causing genes have become elucidated. One such example is deletion at Xq22.2, previously associated with a neurodevel...
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Published in | European journal of human genetics : EJHG Vol. 32; no. 3; pp. 350 - 356 |
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Main Authors | , , , , , , , , , , , , , , , , |
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01.03.2024
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Abstract | Numerous contiguous gene deletion syndromes causing neurodevelopmental disorders have previously been defined using cytogenetics for which only in the current genomic era the disease-causing genes have become elucidated. One such example is deletion at Xq22.2, previously associated with a neurodevelopmental disorder which has more recently been found to be caused by de novo loss-of-function variants in TCEAL1. So far, a single study reported six unrelated individuals with this monogenetic disorder, presenting with syndromic features including developmental delay especially affecting expressive speech, intellectual disability, autistic-like behaviors, hypotonia, gait abnormalities and mild facial dysmorphism, in addition to ocular, gastrointestinal, and immunologic abnormalities. Here we report on four previously undescribed individuals, including two adults, with de novo truncating variants in TCEAL1, identified through trio exome or genome sequencing, further delineating the phenotype of the TCEAL1-related disorder. Whereas overall we identify similar features compared to the original report, we also highlight features in our adult individuals including hyperphagia, obesity, and endocrine abnormalities including hyperinsulinemia, hyperandrogenemia, and polycystic ovarian syndrome. X chromosome inactivation and RNA-seq studies further provide functional insights in the molecular mechanisms. Together this report expands the phenotypic and molecular spectrum of the TCEAL1-related disorder which will be useful for counseling of newly identified individuals and their families. |
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AbstractList | Abstract
Numerous contiguous gene deletion syndromes causing neurodevelopmental disorders have previously been defined using cytogenetics for which only in the current genomic era the disease-causing genes have become elucidated. One such example is deletion at Xq22.2, previously associated with a neurodevelopmental disorder which has more recently been found to be caused by de novo loss-of-function variants in
TCEAL1
. So far, a single study reported six unrelated individuals with this monogenetic disorder, presenting with syndromic features including developmental delay especially affecting expressive speech, intellectual disability, autistic-like behaviors, hypotonia, gait abnormalities and mild facial dysmorphism, in addition to ocular, gastrointestinal, and immunologic abnormalities. Here we report on four previously undescribed individuals, including two adults, with de novo truncating variants in
TCEAL1
, identified through trio exome or genome sequencing, further delineating the phenotype of the
TCEAL1
-related disorder. Whereas overall we identify similar features compared to the original report, we also highlight features in our adult individuals including hyperphagia, obesity, and endocrine abnormalities including hyperinsulinemia, hyperandrogenemia, and polycystic ovarian syndrome. X chromosome inactivation and RNA-seq studies further provide functional insights in the molecular mechanisms. Together this report expands the phenotypic and molecular spectrum of the
TCEAL1
-related disorder which will be useful for counseling of newly identified individuals and their families. Numerous contiguous gene deletion syndromes causing neurodevelopmental disorders have previously been defined using cytogenetics for which only in the current genomic era the disease-causing genes have become elucidated. One such example is deletion at Xq22.2, previously associated with a neurodevelopmental disorder which has more recently been found to be caused by de novo loss-of-function variants in TCEAL1. So far, a single study reported six unrelated individuals with this monogenetic disorder, presenting with syndromic features including developmental delay especially affecting expressive speech, intellectual disability, autistic-like behaviors, hypotonia, gait abnormalities and mild facial dysmorphism, in addition to ocular, gastrointestinal, and immunologic abnormalities. Here we report on four previously undescribed individuals, including two adults, with de novo truncating variants in TCEAL1, identified through trio exome or genome sequencing, further delineating the phenotype of the TCEAL1-related disorder. Whereas overall we identify similar features compared to the original report, we also highlight features in our adult individuals including hyperphagia, obesity, and endocrine abnormalities including hyperinsulinemia, hyperandrogenemia, and polycystic ovarian syndrome. X chromosome inactivation and RNA-seq studies further provide functional insights in the molecular mechanisms. Together this report expands the phenotypic and molecular spectrum of the TCEAL1-related disorder which will be useful for counseling of newly identified individuals and their families. Numerous contiguous gene deletion syndromes causing neurodevelopmental disorders have previously been defined using cytogenetics for which only in the current genomic era the disease-causing genes have become elucidated. One such example is deletion at Xq22.2, previously associated with a neurodevelopmental disorder which has more recently been found to be caused by de novo loss-of-function variants in TCEAL1 . So far, a single study reported six unrelated individuals with this monogenetic disorder, presenting with syndromic features including developmental delay especially affecting expressive speech, intellectual disability, autistic-like behaviors, hypotonia, gait abnormalities and mild facial dysmorphism, in addition to ocular, gastrointestinal, and immunologic abnormalities. Here we report on four previously undescribed individuals, including two adults, with de novo truncating variants in TCEAL1 , identified through trio exome or genome sequencing, further delineating the phenotype of the TCEAL1 -related disorder. Whereas overall we identify similar features compared to the original report, we also highlight features in our adult individuals including hyperphagia, obesity, and endocrine abnormalities including hyperinsulinemia, hyperandrogenemia, and polycystic ovarian syndrome. X chromosome inactivation and RNA-seq studies further provide functional insights in the molecular mechanisms. Together this report expands the phenotypic and molecular spectrum of the TCEAL1 -related disorder which will be useful for counseling of newly identified individuals and their families. |
Author | Lor-Zade, Sarah Grasshoff, Ute Hüffmeier, Ulrike Maraval, Julien Schot, Rachel Faivre, Laurence Wilke, Martina Shi, Yuwei Reis, André van Slegtenhorst, Marjon Haack, Tobias B Albuainain, Fatimah Pauly, Melissa Them, Frédéric Tran Mau Bruel, Ange-Line Horber, Veronka Barakat, Tahsin Stefan |
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References | CO Wilke (1530_CR11) 2011; 7 K Inoue (1530_CR3) 2005; 6 RJ Falb (1530_CR8) 2023; 60 M Deschauer (1530_CR9) 2021; 144 R Deng (1530_CR6) 2023; 146 H Hijazi (1530_CR5) 2022; 109 JDJ Labonne (1530_CR4) 2016; 16 N Sobreira (1530_CR7) 2015; 36 1530_CR10 1530_CR13 T Yamamoto (1530_CR1) 2014; 59 H Hijazi (1530_CR2) 2020; 41 AW Lau (1530_CR12) 1997; 61 |
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Snippet | Numerous contiguous gene deletion syndromes causing neurodevelopmental disorders have previously been defined using cytogenetics for which only in the current... Abstract Numerous contiguous gene deletion syndromes causing neurodevelopmental disorders have previously been defined using cytogenetics for which only in the... |
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SubjectTerms | Adult Autism Autistic Disorder - genetics Base Sequence Cytogenetics DNA-Binding Proteins - genetics Female Gene deletion Humans Hyperinsulinemia Hyperphagia Intellectual disabilities Intellectual Disability - genetics Molecular modelling Neurodevelopmental disorders Neurodevelopmental Disorders - genetics Phenotype Phenotypes Polycystic ovary syndrome Transcription Factors - genetics X-chromosome inactivation |
Title | Confirmation and expansion of the phenotype of the TCEAL1-related neurodevelopmental disorder |
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