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NM_002283.4(KRT85):c.1448_1449del (p.Pro483fs) AND Ectodermal dysplasia, 'pure' hair-nail type

Significance: Pathogenic
ClinVar: RCV000088680

Variant: NM_002283.4(KRT85):c.1448_1449del (p.Pro483fs)

Type: Variant
Allele: NM_002283.4(KRT85):c.1448_1449del (p.Pro483fs) 108186
Gene:
Type: Deletion
Location: Chr12: 52360928 - 52360929 - assembly GRCh38
Chr12: 52754712 - 52754713 - assembly GRCh37
References: OMIM: 602767.0002
dbSNP: 1565766888

Condition

Disease: Ectodermal dysplasia, 'pure' hair-nail type

Citation

    In affected members of a consanguineous Pakistani family (family B) with ectodermal dysplasia of the hair and nails (ECTD4; 602032), Shimomura et al. (2010) identified homozygosity for a 2-bp deletion (1448_1449delCT) in exon 9 of the KRT85 gene. The mutation was predicted to result in a frameshift at codon 483 and a premature stop codon 18 amino acids downstream of the mutation (Pro483ArgfsTer18). Affected members had sparse, brittle hair and diffuse follicular papules on the scalp. The scalp hair shaft showed varying degrees of thickness. Facial and body hair was less dense overall, and the distal ends of the nails were irregularly shaped and broke easily. The mutation segregated with the disorder in the family and was not found in 100 Pakistani control individuals.
PMID:19865094