Case Report: The first Korean familial case of BCAP31-related deafness, dystonia, and cerebral hypomyelination
Deafness, dystonia, and central hypomyelination (DDCH) syndrome (OMIM #300475) is a rare X-linked genetic disorder characterized by developmental delays, deafness, central hypomyelination, and dystonia. We report the first Korean familial case involving twin boy and girl carrying a novel pathogenic...
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Frontiers Media S.A.
2025-01-01
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| Series: | Frontiers in Pediatrics |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fped.2024.1488095/full |
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| author | Yoong-A Suh Jisun Hwang Go Hun Seo Rin Khang Jang Hoon Lee Moon Sung Park Young Bae Sohn |
| author_facet | Yoong-A Suh Jisun Hwang Go Hun Seo Rin Khang Jang Hoon Lee Moon Sung Park Young Bae Sohn |
| author_sort | Yoong-A Suh |
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| description | Deafness, dystonia, and central hypomyelination (DDCH) syndrome (OMIM #300475) is a rare X-linked genetic disorder characterized by developmental delays, deafness, central hypomyelination, and dystonia. We report the first Korean familial case involving twin boy and girl carrying a novel pathogenic BCAP31 variant which was inherited from their mother. The male proband, born prematurely with very low birth weight (VLBW), exhibited severe global developmental delay, microcephaly, failure to thrive, dystonia, seizures, sensorineural hearing loss (SNHL) requiring cochlear implantation, and mild facial dysmorphism. A brain MRI revealed white matter atrophy, thinning of the corpus callosum, and delayed myelination. The twin sister presented with mild developmental delays and bilateral SNHL but did not experience seizures or dystonia. Their mother also had bilateral SNHL. Whole genome sequencing identified a hemizygous pathogenic variant, c.247C>T (p.Gln83Ter), in the BCAP31 in the proband. The variant was also found in his mother and twin sister, who exhibited less severe symptoms. Early genetic evaluation via next-generation sequencing is crucial for timely diagnosis and intervention, particularly in VLBW infants with genetic disorders. This report expands the understanding of genotype-phenotype correlations in DDCH syndrome and highlights the variable phenotypes in manifesting females. |
| format | Article |
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| institution | Kabale University |
| issn | 2296-2360 |
| language | English |
| publishDate | 2025-01-01 |
| publisher | Frontiers Media S.A. |
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| series | Frontiers in Pediatrics |
| spelling | doaj-art-c85027471fe94ede8724d48b875e56922025-01-22T07:11:02ZengFrontiers Media S.A.Frontiers in Pediatrics2296-23602025-01-011210.3389/fped.2024.14880951488095Case Report: The first Korean familial case of BCAP31-related deafness, dystonia, and cerebral hypomyelinationYoong-A Suh0Jisun Hwang1Go Hun Seo2Rin Khang3Jang Hoon Lee4Moon Sung Park5Young Bae Sohn6Department of Pediatrics, Ajou University Hospital, Ajou University School of Medicine, Suwon, Republic of KoreaDepartment of Radiology, Ajou University Hospital, Ajou University School of Medicine, Suwon, Republic of KoreaDepartment of Medical Genetics, 3billion, Inc., Seoul, Republic of KoreaDepartment of Medical Genetics, 3billion, Inc., Seoul, Republic of KoreaDepartment of Pediatrics, Ajou University Hospital, Ajou University School of Medicine, Suwon, Republic of KoreaDepartment of Pediatrics, Ajou University Hospital, Ajou University School of Medicine, Suwon, Republic of KoreaDepartment of Medical Genetics, Ajou University Hospital, Ajou University School of Medicine, Suwon, Republic of KoreaDeafness, dystonia, and central hypomyelination (DDCH) syndrome (OMIM #300475) is a rare X-linked genetic disorder characterized by developmental delays, deafness, central hypomyelination, and dystonia. We report the first Korean familial case involving twin boy and girl carrying a novel pathogenic BCAP31 variant which was inherited from their mother. The male proband, born prematurely with very low birth weight (VLBW), exhibited severe global developmental delay, microcephaly, failure to thrive, dystonia, seizures, sensorineural hearing loss (SNHL) requiring cochlear implantation, and mild facial dysmorphism. A brain MRI revealed white matter atrophy, thinning of the corpus callosum, and delayed myelination. The twin sister presented with mild developmental delays and bilateral SNHL but did not experience seizures or dystonia. Their mother also had bilateral SNHL. Whole genome sequencing identified a hemizygous pathogenic variant, c.247C>T (p.Gln83Ter), in the BCAP31 in the proband. The variant was also found in his mother and twin sister, who exhibited less severe symptoms. Early genetic evaluation via next-generation sequencing is crucial for timely diagnosis and intervention, particularly in VLBW infants with genetic disorders. This report expands the understanding of genotype-phenotype correlations in DDCH syndrome and highlights the variable phenotypes in manifesting females.https://www.frontiersin.org/articles/10.3389/fped.2024.1488095/fullDDCH syndromeBCAP31whole genome sequencingx-linked intellectual disabilitysensorineural hearing loss |
| spellingShingle | Yoong-A Suh Jisun Hwang Go Hun Seo Rin Khang Jang Hoon Lee Moon Sung Park Young Bae Sohn Case Report: The first Korean familial case of BCAP31-related deafness, dystonia, and cerebral hypomyelination Frontiers in Pediatrics DDCH syndrome BCAP31 whole genome sequencing x-linked intellectual disability sensorineural hearing loss |
| title | Case Report: The first Korean familial case of BCAP31-related deafness, dystonia, and cerebral hypomyelination |
| title_full | Case Report: The first Korean familial case of BCAP31-related deafness, dystonia, and cerebral hypomyelination |
| title_fullStr | Case Report: The first Korean familial case of BCAP31-related deafness, dystonia, and cerebral hypomyelination |
| title_full_unstemmed | Case Report: The first Korean familial case of BCAP31-related deafness, dystonia, and cerebral hypomyelination |
| title_short | Case Report: The first Korean familial case of BCAP31-related deafness, dystonia, and cerebral hypomyelination |
| title_sort | case report the first korean familial case of bcap31 related deafness dystonia and cerebral hypomyelination |
| topic | DDCH syndrome BCAP31 whole genome sequencing x-linked intellectual disability sensorineural hearing loss |
| url | https://www.frontiersin.org/articles/10.3389/fped.2024.1488095/full |
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