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NM_002449.5(MSX2):c.443C>T (p.Pro148Leu) AND Craniosynostosis 2

Significance: Pathogenic
ClinVar: RCV000203576

Variant: NM_002449.5(MSX2):c.443C>T (p.Pro148Leu)

Type: Variant
Allele: NM_002449.5(MSX2):c.443C>T (p.Pro148Leu) 217218
Gene:
Type: single nucleotide variant
Location: Chr5: 174156225 - assembly GRCh37
Chr5: 174729222 - assembly GRCh38
References: dbSNP: 104893895
OMIM: 123101.0009
UniProtKB: P35548#VAR_071634

Condition

Disease: Craniosynostosis 2

Citation

    In 7 affected members of a 4-generation Bosnian family segregating autosomal dominant multiple-suture craniosynostosis (CRS2; 604757), Florisson et al. (2013) identified heterozygosity for a c.443C-T transition (c.443C-T, NM_002449.4) in exon 2 of the MSX2 gene, resulting in a pro148-to-leu (P148L) substitution at a highly conserved residue. The mutation was not found in unaffected family members, in an in-house database, or in the 1000 Genomes Project or Exome Variant Server databases.
PMID:23949913