NTRK2-Related Obesity, Hyperphagia, and Developmental Delay: Case Report
Background: NTRK2 is a group of neurological disorders characterized by epilepsy and developmental delay. Neurodevelopmental disorders and obesity are linked to various inherited disorders and are often missed or diagnosed late. Our aim was to review Obesity,hyperphagia,and developmental delay (OBH...
| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
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Discover STM Publishing Ltd
2022-12-01
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| Series: | Journal of Biochemical and Clinical Genetics |
| Subjects: | |
| Online Access: | http://www.ejmanager.com/fulltextpdf.php?mno=121281 |
| _version_ | 1797816637948166144 |
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| author | Anwar Ramadan Alhamas Amal Mohammed Alhashem Ali Alasmari Eissa Ali Faqeih |
| author_facet | Anwar Ramadan Alhamas Amal Mohammed Alhashem Ali Alasmari Eissa Ali Faqeih |
| author_sort | Anwar Ramadan Alhamas |
| collection | DOAJ |
| description | Background:
NTRK2 is a group of neurological disorders characterized by epilepsy and developmental delay. Neurodevelopmental disorders and obesity are linked to various inherited disorders and are often missed or diagnosed late. Our aim was to review Obesity,hyperphagia,and developmental delay (OBHD) which it overlaps with a wide range of neurodevelopmental disorders with obesity. Also, variable expressivity can mislead the diagnosis, especially if there is a parent with a similar phenotype but a milder presentation.
Case presentation: A 8 -year-old girl presented with 6-year history of increase wight. On Neurodevelopmental examination, she found to have a speech delay and autistic features. Parents deny sphincter dysfunction and cognitive delay. Family history was negative for members with a similar presentation. Genetic testing identified a novel mutation in NTKR2 gene. Parents were examined and underwent segregation analysis which came back negative, so it is de novo.
Conclusion: Obesity and neurodevelopmental delay are features that are seen in a wide range of inherited disorders, either chromosomal or single-gene disorders. Here we highlight the importance of thorough history, examination, and the application of genetic testing sooner than later to avoid delaying the diagnosis and report a possible novel variant in the NTRK2 gene. Functional studies would be our next step. [JBCGenetics 2022; 5(2.000): 48-52] |
| first_indexed | 2024-03-13T08:41:37Z |
| format | Article |
| id | doaj.art-fd2d7ffc788145d59344320d50145fbe |
| institution | Directory Open Access Journal |
| issn | 1658-807X |
| language | English |
| last_indexed | 2024-03-13T08:41:37Z |
| publishDate | 2022-12-01 |
| publisher | Discover STM Publishing Ltd |
| record_format | Article |
| series | Journal of Biochemical and Clinical Genetics |
| spelling | doaj.art-fd2d7ffc788145d59344320d50145fbe2023-05-30T11:51:00ZengDiscover STM Publishing LtdJournal of Biochemical and Clinical Genetics1658-807X2022-12-0152485210.24911/JBCGenetics/183-1665949143121281NTRK2-Related Obesity, Hyperphagia, and Developmental Delay: Case ReportAnwar Ramadan Alhamas0Amal Mohammed Alhashem1Ali Alasmari2Eissa Ali Faqeih31Maternal and Children hospital in Alahsaa, King Fahad Medical City (KFMC) 2Division of medical genetic and metabolic medicine, Department of Pediatrics, Prince Sultan Military Medical City,Riyadh,Saudi Arabia, College of Medicine,Alfaisal University Department of Pediatrics, Children's Specialist Hospital,King Fahad Medical City (KFMC) Department of Pediatrics, Children's Specialist Hospital,King Fahad Medical City (KFMC)Background: NTRK2 is a group of neurological disorders characterized by epilepsy and developmental delay. Neurodevelopmental disorders and obesity are linked to various inherited disorders and are often missed or diagnosed late. Our aim was to review Obesity,hyperphagia,and developmental delay (OBHD) which it overlaps with a wide range of neurodevelopmental disorders with obesity. Also, variable expressivity can mislead the diagnosis, especially if there is a parent with a similar phenotype but a milder presentation. Case presentation: A 8 -year-old girl presented with 6-year history of increase wight. On Neurodevelopmental examination, she found to have a speech delay and autistic features. Parents deny sphincter dysfunction and cognitive delay. Family history was negative for members with a similar presentation. Genetic testing identified a novel mutation in NTKR2 gene. Parents were examined and underwent segregation analysis which came back negative, so it is de novo. Conclusion: Obesity and neurodevelopmental delay are features that are seen in a wide range of inherited disorders, either chromosomal or single-gene disorders. Here we highlight the importance of thorough history, examination, and the application of genetic testing sooner than later to avoid delaying the diagnosis and report a possible novel variant in the NTRK2 gene. Functional studies would be our next step. [JBCGenetics 2022; 5(2.000): 48-52]http://www.ejmanager.com/fulltextpdf.php?mno=121281ntrk2,obesitydevelopmental delay |
| spellingShingle | Anwar Ramadan Alhamas Amal Mohammed Alhashem Ali Alasmari Eissa Ali Faqeih NTRK2-Related Obesity, Hyperphagia, and Developmental Delay: Case Report Journal of Biochemical and Clinical Genetics ntrk2,obesity developmental delay |
| title | NTRK2-Related Obesity, Hyperphagia, and Developmental Delay: Case Report |
| title_full | NTRK2-Related Obesity, Hyperphagia, and Developmental Delay: Case Report |
| title_fullStr | NTRK2-Related Obesity, Hyperphagia, and Developmental Delay: Case Report |
| title_full_unstemmed | NTRK2-Related Obesity, Hyperphagia, and Developmental Delay: Case Report |
| title_short | NTRK2-Related Obesity, Hyperphagia, and Developmental Delay: Case Report |
| title_sort | ntrk2 related obesity hyperphagia and developmental delay case report |
| topic | ntrk2,obesity developmental delay |
| url | http://www.ejmanager.com/fulltextpdf.php?mno=121281 |
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