Clinical Presentation and Genetic Analysis of Neonatal 11β-Hydroxylase Deficiency Induced by a Chimeric CYP11B2/CYP11B1 Gene
| Autor: | Wenjuan Cai, Dan Yu, Jian Gao, Qian Deng, Huihui Lin, Yuqing Chen |
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| Jazyk: | angličtina |
| Rok vydání: | 2024 |
| Předmět: | |
| Zdroj: | JCRPE, Vol 16, Iss 3, Pp 372-378 (2024) |
| Druh dokumentu: | article |
| ISSN: | 1308-5727 1308-5735 |
| DOI: | 10.4274/jcrpe.galenos.2023.2023-9-13 |
| Popis: | In terms of prevalence, 11β-hydroxylase deficiency (11β-OHD), a common form of congenital adrenal hyperplasia, closely follows 21-hydroxylase deficiency. 11β-OHD has been attributed to diminished enzymatic activity owing to CYP11B1 gene variants, mainly encompassing single nucleotide variations and insertions-deletions. The involvement of chimeric CYP11B2/CYP11B1 genes in 11β-OHD has rarely been reported. We conducted a genetic investigation on a male infant with generalized pigmentation and abnormal steroid hormone levels. Whole-exome sequencing revealed a heterozygous variant in CYP11B1 inherited from the mother (NM_000497.4: c.1391_1393dup [p.Leu464dup]). Long-range polymerase chain reaction revealed an additional allele, a chimeric CYP11B2/CYP11B1 gene, inherited from the father. The current case report highlights the need to consider the occurrence of gene fusion variants in the diagnosis of neonatal or early infantile 11β-OHD. |
| Databáze: | Directory of Open Access Journals |
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