Shukla-Vernon Syndrome: A Second Family with a Novel Variant in the <i>BCORL1</i> Gene
Shukla-Vernon syndrome (SHUVER) is an extremely rare neurodevelopmental disorder characterized by global developmental delay, intellectual disability, behavioral anomalies, and dysmorphic features. Pathogenic variants in the <i>BCORL1</i> gene have been identified as the molecular cause...
| Main Authors: | , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
MDPI AG
2021-03-01
|
| Series: | Genes |
| Subjects: | |
| Online Access: | https://www.mdpi.com/2073-4425/12/3/452 |
| _version_ | 1797540419942219776 |
|---|---|
| author | Babylakshmi Muthusamy Anikha Bellad Satish Chandra Girimaji Akhilesh Pandey |
| author_facet | Babylakshmi Muthusamy Anikha Bellad Satish Chandra Girimaji Akhilesh Pandey |
| author_sort | Babylakshmi Muthusamy |
| collection | DOAJ |
| description | Shukla-Vernon syndrome (SHUVER) is an extremely rare neurodevelopmental disorder characterized by global developmental delay, intellectual disability, behavioral anomalies, and dysmorphic features. Pathogenic variants in the <i>BCORL1</i> gene have been identified as the molecular cause for this disorder. The <i>BCORL1</i> gene encodes for BCL-6 corepressor-like protein 1, a transcriptional corepressor that is an integral component of protein complexes involved in transcription repression. In this study, we report an Indian family with two male siblings with features of Shukla-Vernon syndrome. The patients exhibited global developmental delay, intellectual disability, kyphosis, seizures, and dysmorphic features including bushy prominent eyebrows with synophrys, sharp beaked prominent nose, protuberant lower jaw, squint, and hypoplastic ears with fused ear lobes. No behavioral abnormalities were observed. Whole exome sequencing revealed a novel potentially pathogenic arginine to cysteine substitution (p.Arg1265Cys) in the BCORL1 protein. This is the second report of Shukla-Vernon syndrome with a novel missense variant in the <i>BCORL1</i> gene. Our study confirms and expands the phenotypes and genotypes described previously for this syndrome and should aid in diagnosis and genetic counselling of patients and their families. |
| first_indexed | 2024-03-10T13:00:53Z |
| format | Article |
| id | doaj.art-54da5fed626741c7b87210c624ede86b |
| institution | Directory Open Access Journal |
| issn | 2073-4425 |
| language | English |
| last_indexed | 2024-03-10T13:00:53Z |
| publishDate | 2021-03-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Genes |
| spelling | doaj.art-54da5fed626741c7b87210c624ede86b2023-11-21T11:31:53ZengMDPI AGGenes2073-44252021-03-0112345210.3390/genes12030452Shukla-Vernon Syndrome: A Second Family with a Novel Variant in the <i>BCORL1</i> GeneBabylakshmi Muthusamy0Anikha Bellad1Satish Chandra Girimaji2Akhilesh Pandey3Institute of Bioinformatics, International Technology Park, Bangalore 560066, IndiaInstitute of Bioinformatics, International Technology Park, Bangalore 560066, IndiaDepartment of Child and Adolescent Psychiatry, NIMHANS, Hosur Road, Bangalore 560029, IndiaManipal Academy of Higher Education, Manipal 576104, IndiaShukla-Vernon syndrome (SHUVER) is an extremely rare neurodevelopmental disorder characterized by global developmental delay, intellectual disability, behavioral anomalies, and dysmorphic features. Pathogenic variants in the <i>BCORL1</i> gene have been identified as the molecular cause for this disorder. The <i>BCORL1</i> gene encodes for BCL-6 corepressor-like protein 1, a transcriptional corepressor that is an integral component of protein complexes involved in transcription repression. In this study, we report an Indian family with two male siblings with features of Shukla-Vernon syndrome. The patients exhibited global developmental delay, intellectual disability, kyphosis, seizures, and dysmorphic features including bushy prominent eyebrows with synophrys, sharp beaked prominent nose, protuberant lower jaw, squint, and hypoplastic ears with fused ear lobes. No behavioral abnormalities were observed. Whole exome sequencing revealed a novel potentially pathogenic arginine to cysteine substitution (p.Arg1265Cys) in the BCORL1 protein. This is the second report of Shukla-Vernon syndrome with a novel missense variant in the <i>BCORL1</i> gene. Our study confirms and expands the phenotypes and genotypes described previously for this syndrome and should aid in diagnosis and genetic counselling of patients and their families.https://www.mdpi.com/2073-4425/12/3/452X-linkedintellectual disabilitytranscription repressionBCORBCL-6co-repressor |
| spellingShingle | Babylakshmi Muthusamy Anikha Bellad Satish Chandra Girimaji Akhilesh Pandey Shukla-Vernon Syndrome: A Second Family with a Novel Variant in the <i>BCORL1</i> Gene Genes X-linked intellectual disability transcription repression BCOR BCL-6 co-repressor |
| title | Shukla-Vernon Syndrome: A Second Family with a Novel Variant in the <i>BCORL1</i> Gene |
| title_full | Shukla-Vernon Syndrome: A Second Family with a Novel Variant in the <i>BCORL1</i> Gene |
| title_fullStr | Shukla-Vernon Syndrome: A Second Family with a Novel Variant in the <i>BCORL1</i> Gene |
| title_full_unstemmed | Shukla-Vernon Syndrome: A Second Family with a Novel Variant in the <i>BCORL1</i> Gene |
| title_short | Shukla-Vernon Syndrome: A Second Family with a Novel Variant in the <i>BCORL1</i> Gene |
| title_sort | shukla vernon syndrome a second family with a novel variant in the i bcorl1 i gene |
| topic | X-linked intellectual disability transcription repression BCOR BCL-6 co-repressor |
| url | https://www.mdpi.com/2073-4425/12/3/452 |
| work_keys_str_mv | AT babylakshmimuthusamy shuklavernonsyndromeasecondfamilywithanovelvariantintheibcorl1igene AT anikhabellad shuklavernonsyndromeasecondfamilywithanovelvariantintheibcorl1igene AT satishchandragirimaji shuklavernonsyndromeasecondfamilywithanovelvariantintheibcorl1igene AT akhileshpandey shuklavernonsyndromeasecondfamilywithanovelvariantintheibcorl1igene |