ISSN: 1308-5727 | E-ISSN: 1308-5735
Volume: 16 Issue: 4 Year: 2024
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Abstracting & Indexing
Turkish Society for Pediatric Endocrinology and Diabetes
Clinical Presentation and Genetic Analysis of Neonatal 11β-Hydroxylase Deficiency Induced by a Chimeric <i>CYP11B2/CYP11B1</i> Gene [J Clin Res Pediatr Endocrinol]
J Clin Res Pediatr Endocrinol. 2024; 16(3): 372-378 | DOI: 10.4274/jcrpe.galenos.2023.2023-9-13

Clinical Presentation and Genetic Analysis of Neonatal 11β-Hydroxylase Deficiency Induced by a Chimeric CYP11B2/CYP11B1 Gene

Wenjuan Cai1, Dan Yu1, Jian Gao1, Qian Deng1, Huihui Lin2, Yuqing Chen1
1Children’s Hospital of Fudan University Anhui Hospital, Clinic of Pediatric Endocrinology and Metabolic Disease, Anhui, China
2Children’s Hospital of Fudan University Anhui Hospital, Clinic of Medical Imaging, Anhui, China

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.

Keywords: 11β, -hydroxylase deficiency, 11β-OHD, CYP11B1, chimeric gene

Corresponding Author: Yuqing Chen, China
Manuscript Language: English
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