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An Orofaciodigital Syndrome 1 Patient and Her Mother Carry the Same OFD1 Mutation but Have Different X Chromosome Inactivation Patterns.
- Source :
-
Internal medicine (Tokyo, Japan) [Intern Med] 2019 Oct 15; Vol. 58 (20), pp. 2989-2992. Date of Electronic Publication: 2019 Jun 27. - Publication Year :
- 2019
-
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.
- Subjects :
- Adult
DNA Mutational Analysis
Exons
Female
Humans
Magnetic Resonance Imaging
Mothers
Mutation
Orofaciodigital Syndromes diagnosis
Pedigree
Proteins metabolism
Radiography, Panoramic
Sequence Deletion
DNA genetics
Orofaciodigital Syndromes genetics
Proteins genetics
X Chromosome Inactivation genetics
Subjects
Details
- Language :
- English
- ISSN :
- 1349-7235
- Volume :
- 58
- Issue :
- 20
- Database :
- MEDLINE
- Journal :
- Internal medicine (Tokyo, Japan)
- Publication Type :
- Academic Journal
- Accession number :
- 31243241
- Full Text :
- https://doi.org/10.2169/internalmedicine.2571-18