A Case Report on 13q12.3 Microdeletion Syndrome Caused by HMGB1 Haploinsufficiency
Heterozygous microdeletions at 13q12.3 are associated with a rare genetic disorder, 13q12.3 microdeletion syndrome, characterized by intellectual disability, microcephaly, development delay, facial dysmorphisms, atopy, and obesity. Reported 13q12.3 microdeletions vary in size and typically encompass...
Saved in:
| Main Authors: | , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Wiley
2024-01-01
|
| Series: | Case Reports in Genetics |
| Online Access: | http://dx.doi.org/10.1155/crig/1912620 |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
| _version_ | 1850175254255632384 |
|---|---|
| author | Ting Wen Brian J. Shayota Lauren Wallace Coumarane Mani Neal Davis Jian Zhao |
| author_facet | Ting Wen Brian J. Shayota Lauren Wallace Coumarane Mani Neal Davis Jian Zhao |
| author_sort | Ting Wen |
| collection | DOAJ |
| description | Heterozygous microdeletions at 13q12.3 are associated with a rare genetic disorder, 13q12.3 microdeletion syndrome, characterized by intellectual disability, microcephaly, development delay, facial dysmorphisms, atopy, and obesity. Reported 13q12.3 microdeletions vary in size and typically encompass multiple genes. Previous studies have defined a minimal overlap region of 13q12.3 microdeletions and suggested that most of the phenotype associated with the 13q12.3 microdeletion syndrome could be attributed to the loss of the high mobility group box 1 (HMGB1) gene within the overlap region. Here, we report a pediatric patient who had typical phenotypic features of 13q12.3 microdeletion syndrome, including motor and moderate speech developmental delays, microcephaly, and severe atopy, along with anxiety and aggressive behaviors. Trio-based microarray analysis identified a 62-kb apparently de novo heterozygous deletion at 13q12.3 in the proband, fully encompassing all coding exons of the HMGB1 gene yet not affecting any other neighboring genes. This case report presents a rare HMGB1 single-gene deletion in a patient with classic features of 13q12.3 microdeletion syndrome, allowing a better delineation of clinical phenotypes associated with the loss of HMGB1. Our findings, together with previous reports, strongly support the pathogenic role of HMGB1 haploinsufficiency in the 13q12.3 microdeletion syndrome. |
| format | Article |
| id | doaj-art-c77ec1641b494fe096eb14db9927f42b |
| institution | OA Journals |
| issn | 2090-6552 |
| language | English |
| publishDate | 2024-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Genetics |
| spelling | doaj-art-c77ec1641b494fe096eb14db9927f42b2025-08-20T02:19:30ZengWileyCase Reports in Genetics2090-65522024-01-01202410.1155/crig/1912620A Case Report on 13q12.3 Microdeletion Syndrome Caused by HMGB1 HaploinsufficiencyTing Wen0Brian J. Shayota1Lauren Wallace2Coumarane Mani3Neal Davis4Jian Zhao5Department of PathologyDivision of Medical GeneticsARUP LaboratoriesARUP LaboratoriesIntermountain Hillcrest PediatricsDepartment of PathologyHeterozygous microdeletions at 13q12.3 are associated with a rare genetic disorder, 13q12.3 microdeletion syndrome, characterized by intellectual disability, microcephaly, development delay, facial dysmorphisms, atopy, and obesity. Reported 13q12.3 microdeletions vary in size and typically encompass multiple genes. Previous studies have defined a minimal overlap region of 13q12.3 microdeletions and suggested that most of the phenotype associated with the 13q12.3 microdeletion syndrome could be attributed to the loss of the high mobility group box 1 (HMGB1) gene within the overlap region. Here, we report a pediatric patient who had typical phenotypic features of 13q12.3 microdeletion syndrome, including motor and moderate speech developmental delays, microcephaly, and severe atopy, along with anxiety and aggressive behaviors. Trio-based microarray analysis identified a 62-kb apparently de novo heterozygous deletion at 13q12.3 in the proband, fully encompassing all coding exons of the HMGB1 gene yet not affecting any other neighboring genes. This case report presents a rare HMGB1 single-gene deletion in a patient with classic features of 13q12.3 microdeletion syndrome, allowing a better delineation of clinical phenotypes associated with the loss of HMGB1. Our findings, together with previous reports, strongly support the pathogenic role of HMGB1 haploinsufficiency in the 13q12.3 microdeletion syndrome.http://dx.doi.org/10.1155/crig/1912620 |
| spellingShingle | Ting Wen Brian J. Shayota Lauren Wallace Coumarane Mani Neal Davis Jian Zhao A Case Report on 13q12.3 Microdeletion Syndrome Caused by HMGB1 Haploinsufficiency Case Reports in Genetics |
| title | A Case Report on 13q12.3 Microdeletion Syndrome Caused by HMGB1 Haploinsufficiency |
| title_full | A Case Report on 13q12.3 Microdeletion Syndrome Caused by HMGB1 Haploinsufficiency |
| title_fullStr | A Case Report on 13q12.3 Microdeletion Syndrome Caused by HMGB1 Haploinsufficiency |
| title_full_unstemmed | A Case Report on 13q12.3 Microdeletion Syndrome Caused by HMGB1 Haploinsufficiency |
| title_short | A Case Report on 13q12.3 Microdeletion Syndrome Caused by HMGB1 Haploinsufficiency |
| title_sort | case report on 13q12 3 microdeletion syndrome caused by hmgb1 haploinsufficiency |
| url | http://dx.doi.org/10.1155/crig/1912620 |
| work_keys_str_mv | AT tingwen acasereporton13q123microdeletionsyndromecausedbyhmgb1haploinsufficiency AT brianjshayota acasereporton13q123microdeletionsyndromecausedbyhmgb1haploinsufficiency AT laurenwallace acasereporton13q123microdeletionsyndromecausedbyhmgb1haploinsufficiency AT coumaranemani acasereporton13q123microdeletionsyndromecausedbyhmgb1haploinsufficiency AT nealdavis acasereporton13q123microdeletionsyndromecausedbyhmgb1haploinsufficiency AT jianzhao acasereporton13q123microdeletionsyndromecausedbyhmgb1haploinsufficiency AT tingwen casereporton13q123microdeletionsyndromecausedbyhmgb1haploinsufficiency AT brianjshayota casereporton13q123microdeletionsyndromecausedbyhmgb1haploinsufficiency AT laurenwallace casereporton13q123microdeletionsyndromecausedbyhmgb1haploinsufficiency AT coumaranemani casereporton13q123microdeletionsyndromecausedbyhmgb1haploinsufficiency AT nealdavis casereporton13q123microdeletionsyndromecausedbyhmgb1haploinsufficiency AT jianzhao casereporton13q123microdeletionsyndromecausedbyhmgb1haploinsufficiency |