Dias-Logan syndrome with a p.Leu360Profs*212 heterozygous pathogenic variant of in a Chinese patient: A case report
Dias-Logan syndrome, also known as intellectual developmental disorder with persistence of fetal hemoglobin (HbF), or BCL11A -related intellectual developmental disorder, is an extremely rare neurogenetic disorder characterized by intellectual disability (ID), delayed psychomotor development, variab...
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| Format: | Article |
| Language: | English |
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SAGE Publishing
2025-01-01
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| Series: | SAGE Open Medical Case Reports |
| Online Access: | https://doi.org/10.1177/2050313X251314069 |
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| author | Yizhuo Shu Xiaoling Chen Zhuoqun Wei Chunyue Chen |
| author_facet | Yizhuo Shu Xiaoling Chen Zhuoqun Wei Chunyue Chen |
| author_sort | Yizhuo Shu |
| collection | DOAJ |
| description | Dias-Logan syndrome, also known as intellectual developmental disorder with persistence of fetal hemoglobin (HbF), or BCL11A -related intellectual developmental disorder, is an extremely rare neurogenetic disorder characterized by intellectual disability (ID), delayed psychomotor development, variable dysmorphic features, and asymptomatic persistence of fetal hemoglobin. The prevalence and incidence of this condition are currently unknown. We report an 8-year-old Han Chinese male patient with Dias-Logan syndrome who carries a de novo heterozygous pathogenic variant, c.1078dupC (p.Leu360Profs*212), in the BCL11A gene, leading to ID and γ-globin suppression, identified through trio-based whole exome sequencing (trio-WES). All his blood parameters were normal except for an elevated HbF level, which was 19.9% of total hemoglobin. Given the negative family history for ID, epilepsy, and alcohol consumption, de novo inheritance was presumed. Consequently, trio-WES analysis (parents and child) was conducted as it can identify potential new causal variants in the offspring. So far, a comprehensive understanding of the phenotypic spectrum of Dias-Logan syndrome and the impact of genotypic variation on disease severity is still lacking. Therefore, our case report enriches the existing literature on the clinical spectrum and genotype–phenotype correlations of BCL11A -related syndrome and provides some helpful information for diagnosis, management, and genetic counseling. |
| format | Article |
| id | doaj-art-699eab45b8504f90ac99b22aa0908e3f |
| institution | Kabale University |
| issn | 2050-313X |
| language | English |
| publishDate | 2025-01-01 |
| publisher | SAGE Publishing |
| record_format | Article |
| series | SAGE Open Medical Case Reports |
| spelling | doaj-art-699eab45b8504f90ac99b22aa0908e3f2025-01-20T07:03:23ZengSAGE PublishingSAGE Open Medical Case Reports2050-313X2025-01-011310.1177/2050313X251314069Dias-Logan syndrome with a p.Leu360Profs*212 heterozygous pathogenic variant of in a Chinese patient: A case reportYizhuo Shu0Xiaoling Chen1Zhuoqun Wei2Chunyue Chen3School of Stomatology, Zhejiang Chinese Medical University, Hangzhou, Zhejiang Province, ChinaDepartment of Biochemistry, School of Basic Medical Sciences, Zhejiang Chinese Medical University, Hangzhou, Zhejiang Province, ChinaDepartment of Acupuncture and Massage, The Third Clinical Medical College-Rehabilitation College, Zhejiang Chinese Medical University, Hangzhou, Zhejiang Province, ChinaDepartment of Reproductive Medicine, Zhejiang Provincial Hospital of Integrated Traditional Chinese and Western Medicine & Hangzhou Red Cross Hospital, Zhejiang Chinese Medical University, Hangzhou, Zhejiang Province, ChinaDias-Logan syndrome, also known as intellectual developmental disorder with persistence of fetal hemoglobin (HbF), or BCL11A -related intellectual developmental disorder, is an extremely rare neurogenetic disorder characterized by intellectual disability (ID), delayed psychomotor development, variable dysmorphic features, and asymptomatic persistence of fetal hemoglobin. The prevalence and incidence of this condition are currently unknown. We report an 8-year-old Han Chinese male patient with Dias-Logan syndrome who carries a de novo heterozygous pathogenic variant, c.1078dupC (p.Leu360Profs*212), in the BCL11A gene, leading to ID and γ-globin suppression, identified through trio-based whole exome sequencing (trio-WES). All his blood parameters were normal except for an elevated HbF level, which was 19.9% of total hemoglobin. Given the negative family history for ID, epilepsy, and alcohol consumption, de novo inheritance was presumed. Consequently, trio-WES analysis (parents and child) was conducted as it can identify potential new causal variants in the offspring. So far, a comprehensive understanding of the phenotypic spectrum of Dias-Logan syndrome and the impact of genotypic variation on disease severity is still lacking. Therefore, our case report enriches the existing literature on the clinical spectrum and genotype–phenotype correlations of BCL11A -related syndrome and provides some helpful information for diagnosis, management, and genetic counseling.https://doi.org/10.1177/2050313X251314069 |
| spellingShingle | Yizhuo Shu Xiaoling Chen Zhuoqun Wei Chunyue Chen Dias-Logan syndrome with a p.Leu360Profs*212 heterozygous pathogenic variant of in a Chinese patient: A case report SAGE Open Medical Case Reports |
| title | Dias-Logan syndrome with a p.Leu360Profs*212 heterozygous pathogenic variant of in a Chinese patient: A case report |
| title_full | Dias-Logan syndrome with a p.Leu360Profs*212 heterozygous pathogenic variant of in a Chinese patient: A case report |
| title_fullStr | Dias-Logan syndrome with a p.Leu360Profs*212 heterozygous pathogenic variant of in a Chinese patient: A case report |
| title_full_unstemmed | Dias-Logan syndrome with a p.Leu360Profs*212 heterozygous pathogenic variant of in a Chinese patient: A case report |
| title_short | Dias-Logan syndrome with a p.Leu360Profs*212 heterozygous pathogenic variant of in a Chinese patient: A case report |
| title_sort | dias logan syndrome with a p leu360profs 212 heterozygous pathogenic variant of in a chinese patient a case report |
| url | https://doi.org/10.1177/2050313X251314069 |
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