An Orofaciodigital Syndrome 1 Patient and Her Mother Carry the Same OFD1 Mutation but Have Different X Chromosome Inactivation Patterns.
Intern Med
; 58(20): 2989-2992, 2019 Oct 15.
Article
em En
| MEDLINE
| ID: mdl-31243241
ABSTRACT
Orofaciodigital syndrome 1 (OFD-1) is a rare, X-linked, dominantly inherited disorder caused by an OFD1 mutation that can cause polycystic kidneys. A 37-year-old woman on hemodialysis therapy was admitted to our hospital for trans-catheter arterial embolization therapy for enlarged polycystic kidneys. Lobulated tongue and brachydactyly were noticed, prompting an OFD1 sequencing analysis. Sequencing revealed a causal four-base-pair deletion in exon 13, both in the patient and in her mother, whose renal function had been retained. The peripheral leukocyte X chromosome inactivation pattern was skewed in the patient but not in her mother, suggesting some role in their phenotypic difference.
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Texto completo:
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Base de dados:
MEDLINE
Assunto principal:
Síndromes Orofaciodigitais
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DNA
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Proteínas
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Inativação do Cromossomo X
Idioma:
En
Ano de publicação:
2019
Tipo de documento:
Article