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Microphthalmia is not a mandatory finding in X-linked recessive syndromic microphthalmia caused by the recurrentBCORvariant p.Pro85Leu
- Source :
- American Journal of Medical Genetics Part A. 176:2872-2876
- Publication Year :
- 2018
- Publisher :
- Wiley, 2018.
-
Abstract
- Mutations in BCOR cause X-linked dominant and X-linked recessive forms of syndromic microphthalmia. By exome sequencing, we identified the recurrent BCOR mutation p.Pro85Leu in two brothers and their unaffected mother. While the older brother's phenotype completely fits the described phenotypic spectrum of X-linked recessive BCOR-associated Lenz microphthalmia syndrome, the younger brother showed developmental delay, microcephaly, and skeletal anomalies, but not the key feature of microphthalmia. In contrast to the previously published families, our findings demonstrate a large variability of BCOR-associated, syndromic phenotypes, indicating incomplete penetrance of p.Pro85Leu with regards to microphthalmia in males.
- Subjects :
- Male
0301 basic medicine
congenital, hereditary, and neonatal diseases and abnormalities
Microcephaly
DNA Mutational Analysis
Penetrance
Biology
medicine.disease_cause
Microphthalmia
Diagnosis, Differential
03 medical and health sciences
Genes, X-Linked
Proto-Oncogene Proteins
Genetics
medicine
Humans
Microphthalmos
Genetics (clinical)
Exome sequencing
X-linked recessive inheritance
Mutation
Anophthalmos
medicine.disease
Magnetic Resonance Imaging
Phenotype
eye diseases
Pedigree
Repressor Proteins
Lenz microphthalmia syndrome
030104 developmental biology
Amino Acid Substitution
Female
sense organs
Subjects
Details
- ISSN :
- 15524825
- Volume :
- 176
- Database :
- OpenAIRE
- Journal :
- American Journal of Medical Genetics Part A
- Accession number :
- edsair.doi.dedup.....a04c8123f2c824c4f001ebfa09f3cd61