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NM_182961.4(SYNE1):c.24284G>A (p.Arg8095His) AND Emery-Dreifuss muscular dystrophy 4, autosomal dominant

Significance: Pathogenic
ClinVar: RCV000002422

Variant: NM_182961.4(SYNE1):c.24284G>A (p.Arg8095His)

Type: Variant
Allele: NM_182961.4(SYNE1):c.24284G>A (p.Arg8095His) 17371
Gene:
Type: single nucleotide variant
Location: Chr6: 152151987 - assembly GRCh38
Chr6: 152473122 - assembly GRCh37
References: dbSNP: 119103246
OMIM: 608441.0008

Condition

Disease: Emery-Dreifuss muscular dystrophy 4, autosomal dominant

Citation

    In a man (family 1) with Emery-Dreifuss muscular dystrophy (EDMD4; 612998), Zhang et al. (2007) identified a heterozygous 966G-A transition in exon 6 of the SYNE1 gene, resulting in an arg257-to-his (R257H) substitution in the second spectrin repeat. He became wheelchair-bound at age 26 years but had no cardiac involvement. The mutation was not found in 384 control alleles. The patient's unaffected mother did not carry the variant; the father was deceased and not studied.
PMID:17761684