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Congenital adrenal hyperplasia with a CYP21A2 deletion overlapping the tenascin-X gene: an atypical presentation
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Orientador(es)
Resumo(s)
Objectives: Congenital Adrenal Hyperplasia (CAH) is a
group of genetic diseases characterized by impaired
cortisol biosynthesis. 95% of CAH cases result from muta tion in the CYP21A2 gene encoding 21-hydroxilase. TNX-B
gene partially overlaps CYP21A2 and encodes a matrix
protein called Tenascin-X (TNX). Complete tenascin defi ciency causes Enlers-Danlos syndrome (EDS). A mono
allelic variant called CAH-X CH-1 was recently described,
resulting from a CYP21A2 complete deletion that extends
into the TNXB. This haploinsufficiency of TNX may be
associated with a mild hypermobility form of EDS, as well
as other connective tissue comorbidities such as hernia,
cardiac defects and chronic arthralgia.
Case presentation: We report four patients heterozygous
for a CAH-X CH-1 allele that do not present clinical mani festations of the EDS.
Conclusions: All CAH patients, carriers of these TNXA/
TNXB chimeras, should be evaluated for clinical manifes tations related to connective tissue hypermobility, cardiac abnormalities and other EDS features, allowing for better
clinical surveillance management
Descrição
Case Reports
Palavras-chave
CAH-X Syndrome CYP21A2 Tenascin-X TNXA TNXB Genética Humana Doenças Genéticas
Contexto Educativo
Citação
J Pediatr Endocrinol Metab. 2022 Oct 20;36(1):81-85. doi: 10.1515/jpem-2022-0396. Print 2023 Jan 27
Editora
De Gruyter