MYT1L mutation in a patient causes intellectual disability and early onset of obesity: a case report and review of the literature
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Abeer Al Tuwaijri
Abstract
Background
Obesity has become one of the greatest health risks worldwide. Recently, there was an explosion of information regarding the role of the central nervous system (CNS) in the development of monogenic and syndromic obesity.
Case presentation
Over the last decade, terminal and interstitial submicroscopic deletions of copy number variants (CNVs) in 2p25.3 and single nucleotide variants (SNVs) in myelin transcription factor 1 like (MYT1L) were detected by genome-wide array analysis and whole exome sequencing (WES) in patients with a nonspecific clinical phenotype that commonly includes intellectual disability (ID), early onset of obesity and speech delay. Here, we report the first Saudi female patient with mild to moderate ID, early onset of obesity and speech delay associated with a de novo pathogenic SNV in the MYT1L gene (c. 1585G>A [Gly529Arg]), which causes an amino acid change from Gly to Arg at position 529 that leads to mental retardation, autosomal dominant 39.
Acknowledgments
We are grateful to the patient and her family reported in this article for their genuine support.
Ethics approval and consent to participate: The study was approved by the research committee of King Abdullah International Medical Research Centre in Riyadh, Saudi Arabia (RC16/113/R). The parents of the patient provided written informed consent for publication of the case details and analysis.
Author contributions: AAT performed all the work associated with preparing, writing and submitting the manuscript. MAF edited the manuscript and contributed to the clinical diagnosis and management of the patients.
Research funding: No funding was obtained for this article from any institution or agency.
Employment or leadership: None declared.
Honorarium: None declared.
Competing interests: The funding organization(s) played no role in the study design; in the collection, analysis, and interpretation of data; in the writing of the report; or in the decision to submit the report for publication.
Internet resources: Decipher (https://decipher.sanger.ac.uk/).
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©2019 Walter de Gruyter GmbH, Berlin/Boston
Artikel in diesem Heft
- Frontmatter
- Review
- The importance of anthropological methods in the diagnosis of rare diseases
- Original Articles
- PON1 arylesterase activity, HDL functionality and their correlation in malnourished children
- Prevalence of dyslipidemia and factors affecting dyslipidemia in young adults with type 1 diabetes: evaluation of statin prescribing
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- Evaluation of long-term follow-up and methimazole therapy outcomes of pediatric Graves’ disease: a single-center experience
- Endocrine consequences of neuroblastoma treatment in children: 20 years’ experience of a single center
- Analysis of diabetes-associated autoantibodies in children and adolescents with autoimmune thyroid diseases
- Adrenal function of extremely premature infants in the first 5 days after birth
- Atypical presentation of Leydig cell tumour in three prepubertal patients: diagnosis, treatment and outcomes
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- Comparing the validity of continuous metabolic syndrome risk scores for predicting pediatric metabolic syndrome: the CASPIAN-V study
- Primary pigmented nodular adrenocortical disease (PPNAD): single centre experience
- Short Communication
- Classical galactosemia patients can achieve high IQ scores
- Case Reports
- Idiopathic gonadotropin-independent precocious puberty – is regular surveillance required?
- MYT1L mutation in a patient causes intellectual disability and early onset of obesity: a case report and review of the literature
- A case report and literature review of monoallelic mutation of GHR
- Pitfalls in the diagnosis of insulin autoimmune syndrome (Hirata’s disease) in a hypoglycemic child: a case report and review of the literature
Artikel in diesem Heft
- Frontmatter
- Review
- The importance of anthropological methods in the diagnosis of rare diseases
- Original Articles
- PON1 arylesterase activity, HDL functionality and their correlation in malnourished children
- Prevalence of dyslipidemia and factors affecting dyslipidemia in young adults with type 1 diabetes: evaluation of statin prescribing
- Myocardial dysfunction in relation to serum thiamine levels in children with diabetic ketoacidosis
- Evaluation of long-term follow-up and methimazole therapy outcomes of pediatric Graves’ disease: a single-center experience
- Endocrine consequences of neuroblastoma treatment in children: 20 years’ experience of a single center
- Analysis of diabetes-associated autoantibodies in children and adolescents with autoimmune thyroid diseases
- Adrenal function of extremely premature infants in the first 5 days after birth
- Atypical presentation of Leydig cell tumour in three prepubertal patients: diagnosis, treatment and outcomes
- The diagnosis of cystinosis in patients reveals new CTNS gene mutations in the Chinese population
- Comparing the validity of continuous metabolic syndrome risk scores for predicting pediatric metabolic syndrome: the CASPIAN-V study
- Primary pigmented nodular adrenocortical disease (PPNAD): single centre experience
- Short Communication
- Classical galactosemia patients can achieve high IQ scores
- Case Reports
- Idiopathic gonadotropin-independent precocious puberty – is regular surveillance required?
- MYT1L mutation in a patient causes intellectual disability and early onset of obesity: a case report and review of the literature
- A case report and literature review of monoallelic mutation of GHR
- Pitfalls in the diagnosis of insulin autoimmune syndrome (Hirata’s disease) in a hypoglycemic child: a case report and review of the literature
