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2023 ACMG Annual Clinical Genetics Meeting Digital ...
A Male Patient with mild Osteopathia Striata with ...
A Male Patient with mild Osteopathia Striata with Cranial Sclerosis, Expanding The Phenotypic Spectrum
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This document describes a case of a male patient with Osteopathia Striata with Cranial Sclerosis (OSCS). OSCS is a rare X-linked condition caused by pathogenic variants in the AMER1 gene. The patient underwent trio exome sequencing, which revealed a hemizygous AMER1 pathogenic variant inherited from his mother. The mother was found to be mosaic for the AMER1 variant. The variant is not expected to cause nonsense-mediated decay and some of the AMER1 protein truncation is expected to be preserved. The patient presented with macrocephaly, hypertelorism, depressed and wide nasal bridge, and a small chin. They also had biventricular cardiac dysfunction, tortuous ductus arteriosus, cerebral ventriculomegaly, and mild hearing loss.<br /><br />The authors suggest that OSCS male phenotypes represent a spectrum of severity based on the alteration of the AMER1 gene and its encoded protein. They highlight the need for further study and reporting of genotype-phenotype correlations to accurately predict the phenotype and provide appropriate family counseling and management. The document includes a table reviewing some male cases with AMER1 variants reported in the literature.<br /><br />In conclusion, this case report expands the phenotypic spectrum of OSCS in males. It highlights the importance of understanding the impact of genetic variants on the severity of the condition and emphasizes the need for further research in this area.
Asset Subtitle
Presenting Author - Aya Abu-El-Haija, MD; Co-Author - Tomislav Glavan, .; Co-Author - Abdulrahman Aldeeri, MD; Co-Author - Ivana Mihalek, PhD;
Meta Tag
Clinical History
Phenotype
Phenotypic delineation of disorders
Co-Author
Tomislav Glavan, .
Co-Author
Abdulrahman Aldeeri, MD
Co-Author
Ivana Mihalek, PhD
Presenting Author
Aya Abu-El-Haija, MD
Keywords
Osteopathia Striata with Cranial Sclerosis
OSCS
AMER1 gene
pathogenic variants
trio exome sequencing
hemizygous AMER1 pathogenic variant
mosaic AMER1 variant
phenotypic spectrum
genotype-phenotype correlations
family counseling
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