Step-by-Step Double-Trouble OBAIRH and DMD Diagnosis in a One-Year-Old Boy
We present a case of a combination of two rare hereditary disorders: obesity, adrenal insufficiency and red hair syndrome (OBAIRH) and Duchenne muscular dystrophy (DMD) in a boy. Both diseases were diagnosed during the first year of life. OBAIRH was suggested based on the ethnicity and family histor...
| Main Authors: | , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
MDPI AG
2023-08-01
|
| Series: | International Journal of Molecular Sciences |
| Subjects: | |
| Online Access: | https://www.mdpi.com/1422-0067/24/15/12357 |
| _version_ | 1797586603470749696 |
|---|---|
| author | Olga Shchagina Vera Kurilova Elena Zinina Vyacheslav Porubov Svetlana Efishova Aleksander Polyakov |
| author_facet | Olga Shchagina Vera Kurilova Elena Zinina Vyacheslav Porubov Svetlana Efishova Aleksander Polyakov |
| author_sort | Olga Shchagina |
| collection | DOAJ |
| description | We present a case of a combination of two rare hereditary disorders: obesity, adrenal insufficiency and red hair syndrome (OBAIRH) and Duchenne muscular dystrophy (DMD) in a boy. Both diseases were diagnosed during the first year of life. OBAIRH was suggested based on the ethnicity and family history of the patient, while DMD was based on an extreme increase in transaminase and CK (creatine kinase) levels during a biochemical analysis of his blood. The OBAIRH syndrome was caused by a pathogenic homozygous variant in the regulatory region of the <i>POMC</i> gene (NM_001035256.3): c.-71+1G>A, while DMD was caused by the de novo deletion of exons 38–45 of the <i>DMD</i> (NM_004006.3) gene (NC_000023.10:g.(?_32380941)(31950285_?)del). |
| first_indexed | 2024-03-11T00:25:26Z |
| format | Article |
| id | doaj.art-66b9dbb16ed844ea807cd9964a1a16c1 |
| institution | Directory Open Access Journal |
| issn | 1661-6596 1422-0067 |
| language | English |
| last_indexed | 2024-03-11T00:25:26Z |
| publishDate | 2023-08-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | International Journal of Molecular Sciences |
| spelling | doaj.art-66b9dbb16ed844ea807cd9964a1a16c12023-11-18T23:03:58ZengMDPI AGInternational Journal of Molecular Sciences1661-65961422-00672023-08-0124151235710.3390/ijms241512357Step-by-Step Double-Trouble OBAIRH and DMD Diagnosis in a One-Year-Old BoyOlga Shchagina0Vera Kurilova1Elena Zinina2Vyacheslav Porubov3Svetlana Efishova4Aleksander Polyakov5Research Centre for Medical Genetics, Moscow 115522, RussiaState Budgetary Institution of Health of the Perm Region “Regional Children’s Clinical Hospital”, Perm 614066, RussiaResearch Centre for Medical Genetics, Moscow 115522, RussiaState Budgetary Institution of Health of the Perm Region “Regional Children’s Clinical Hospital”, Perm 614066, RussiaState Budgetary Institution of Health of the Perm Region “Regional Children’s Clinical Hospital”, Perm 614066, RussiaResearch Centre for Medical Genetics, Moscow 115522, RussiaWe present a case of a combination of two rare hereditary disorders: obesity, adrenal insufficiency and red hair syndrome (OBAIRH) and Duchenne muscular dystrophy (DMD) in a boy. Both diseases were diagnosed during the first year of life. OBAIRH was suggested based on the ethnicity and family history of the patient, while DMD was based on an extreme increase in transaminase and CK (creatine kinase) levels during a biochemical analysis of his blood. The OBAIRH syndrome was caused by a pathogenic homozygous variant in the regulatory region of the <i>POMC</i> gene (NM_001035256.3): c.-71+1G>A, while DMD was caused by the de novo deletion of exons 38–45 of the <i>DMD</i> (NM_004006.3) gene (NC_000023.10:g.(?_32380941)(31950285_?)del).https://www.mdpi.com/1422-0067/24/15/12357OBAIRHDMDdouble trouble<i>POMC</i> |
| spellingShingle | Olga Shchagina Vera Kurilova Elena Zinina Vyacheslav Porubov Svetlana Efishova Aleksander Polyakov Step-by-Step Double-Trouble OBAIRH and DMD Diagnosis in a One-Year-Old Boy International Journal of Molecular Sciences OBAIRH DMD double trouble <i>POMC</i> |
| title | Step-by-Step Double-Trouble OBAIRH and DMD Diagnosis in a One-Year-Old Boy |
| title_full | Step-by-Step Double-Trouble OBAIRH and DMD Diagnosis in a One-Year-Old Boy |
| title_fullStr | Step-by-Step Double-Trouble OBAIRH and DMD Diagnosis in a One-Year-Old Boy |
| title_full_unstemmed | Step-by-Step Double-Trouble OBAIRH and DMD Diagnosis in a One-Year-Old Boy |
| title_short | Step-by-Step Double-Trouble OBAIRH and DMD Diagnosis in a One-Year-Old Boy |
| title_sort | step by step double trouble obairh and dmd diagnosis in a one year old boy |
| topic | OBAIRH DMD double trouble <i>POMC</i> |
| url | https://www.mdpi.com/1422-0067/24/15/12357 |
| work_keys_str_mv | AT olgashchagina stepbystepdoubletroubleobairhanddmddiagnosisinaoneyearoldboy AT verakurilova stepbystepdoubletroubleobairhanddmddiagnosisinaoneyearoldboy AT elenazinina stepbystepdoubletroubleobairhanddmddiagnosisinaoneyearoldboy AT vyacheslavporubov stepbystepdoubletroubleobairhanddmddiagnosisinaoneyearoldboy AT svetlanaefishova stepbystepdoubletroubleobairhanddmddiagnosisinaoneyearoldboy AT aleksanderpolyakov stepbystepdoubletroubleobairhanddmddiagnosisinaoneyearoldboy |