611091.2.1

Country

Lebanon

HPO Terms

Seizure; Intellectual disability; Axial hypotonia; Short stature; Failure to thrive; Microcephaly
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Sex

Male

Family History

Yes

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_017755.6:c.538-1G>C2

Remarks

The novel mutation deletes the splice acceptor site of exon 6 leading to mRNA instability. Patient fibroblasts (from two of the affected siblings) were shown to lack NSUN2 protein.

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
611091.2.2LebanonIntellectual disability; Axial hypotonia; Short stature; Failure to thrive; MicrocephalyFemaleYesYes
611091.2.3LebanonIntellectual disability; Axial hypotonia; Short stature; Failure to thrive; Microcephaly; EczemaFemaleYesYes
611091.2.4LebanonFemaleMother of siblings 611091.2.1-611091.2.3
611091.2.5LebanonMaleFather of siblings 611091.2.1-611091.2.3
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