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Steatocystoma multiplex is associated with the R94C mutation in the KRTl7 gene.

Liu Q, Wu W, Lu J, Wang P, Qiao F - Mol Med Rep (2015)

Bottom Line: The mutation was not identified in the 15 unaffected family members or in the 100 unrelated control individuals.Therefore, the present study identified a causative mutation in the KRT17 gene in a large Chinese SM pedigree, exhibiting autosomal dominance.A review of the literature suggested that, in addition to the mutation factor, other modifying factors contribute to the phenotype of familial SM.

View Article: PubMed Central - PubMed

Affiliation: Department of Dermatology, Hainan Provincial Hospital of Skin Disease, Haikou, Hainan 570206, P.R. China.

ABSTRACT
Steatocystoma multiplex (SM) is an uncommon disorder, characterized by numerous skin‑colored subcutaneous cysts. A number of SM pedigrees have been identified with mutations in the keratin 17 (KRT17) gene. The present study examined a four‑generation Chinese pedigree with an autosomal dominant mode of inheritance and examined its genetic basis. A review of the literature on KRT17 gene mutations in the SM pedigree was also performed to investigate the KRT17 gene mutation and genotype‑phenotype correlation. Exon 1 of the KRTl7 gene was amplified using polymerase chain reaction (PCR) from genomic DNA obtained, which was obtained from 25 family members in the selected Chinese pedigree and from 100 unrelated control individuals. The DNA was then subjected to automatic DNA sequencing. Genealogical investigations demonstrated an autosomal dominant pattern, and direct sequencing of the PCR product revealed a heterozygous mutation, c.280C/T (R94C), which was located in exon 1 of the KRT17 gene in all 10 affected family members. The mutation was not identified in the 15 unaffected family members or in the 100 unrelated control individuals. Therefore, the present study identified a causative mutation in the KRT17 gene in a large Chinese SM pedigree, exhibiting autosomal dominance. A review of the literature suggested that, in addition to the mutation factor, other modifying factors contribute to the phenotype of familial SM.

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DNA sequence electrophoretogram of the DNA obtained from the proband (III-13) and the proband's mother (II-4). (A) DNA sequence electrophoretogram of the heterozygous mutation R94C (c.280C>T; GenBank entry: NM_000422) of KRT17 in the proband (indicated by the arrow). (B) No equivalent mutation was detected in the proband's mother.
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f4-mmr-12-04-5072: DNA sequence electrophoretogram of the DNA obtained from the proband (III-13) and the proband's mother (II-4). (A) DNA sequence electrophoretogram of the heterozygous mutation R94C (c.280C>T; GenBank entry: NM_000422) of KRT17 in the proband (indicated by the arrow). (B) No equivalent mutation was detected in the proband's mother.

Mentions: By direct sequencing of the KRT17 genomic PCR products, a heterozygous mutation (c.280C>T) was identified in exon 1 of the KRT17 gene in all 10 affected family members, which causes an arginine to cysteine amino acid substitution at codon 94 (R94C). No such mutation was identified in any of the 15 unaffected family members or in the 100 unrelated control individuals (Fig. 4).


Steatocystoma multiplex is associated with the R94C mutation in the KRTl7 gene.

Liu Q, Wu W, Lu J, Wang P, Qiao F - Mol Med Rep (2015)

DNA sequence electrophoretogram of the DNA obtained from the proband (III-13) and the proband's mother (II-4). (A) DNA sequence electrophoretogram of the heterozygous mutation R94C (c.280C>T; GenBank entry: NM_000422) of KRT17 in the proband (indicated by the arrow). (B) No equivalent mutation was detected in the proband's mother.
© Copyright Policy - open-access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC4581757&req=5

f4-mmr-12-04-5072: DNA sequence electrophoretogram of the DNA obtained from the proband (III-13) and the proband's mother (II-4). (A) DNA sequence electrophoretogram of the heterozygous mutation R94C (c.280C>T; GenBank entry: NM_000422) of KRT17 in the proband (indicated by the arrow). (B) No equivalent mutation was detected in the proband's mother.
Mentions: By direct sequencing of the KRT17 genomic PCR products, a heterozygous mutation (c.280C>T) was identified in exon 1 of the KRT17 gene in all 10 affected family members, which causes an arginine to cysteine amino acid substitution at codon 94 (R94C). No such mutation was identified in any of the 15 unaffected family members or in the 100 unrelated control individuals (Fig. 4).

Bottom Line: The mutation was not identified in the 15 unaffected family members or in the 100 unrelated control individuals.Therefore, the present study identified a causative mutation in the KRT17 gene in a large Chinese SM pedigree, exhibiting autosomal dominance.A review of the literature suggested that, in addition to the mutation factor, other modifying factors contribute to the phenotype of familial SM.

View Article: PubMed Central - PubMed

Affiliation: Department of Dermatology, Hainan Provincial Hospital of Skin Disease, Haikou, Hainan 570206, P.R. China.

ABSTRACT
Steatocystoma multiplex (SM) is an uncommon disorder, characterized by numerous skin‑colored subcutaneous cysts. A number of SM pedigrees have been identified with mutations in the keratin 17 (KRT17) gene. The present study examined a four‑generation Chinese pedigree with an autosomal dominant mode of inheritance and examined its genetic basis. A review of the literature on KRT17 gene mutations in the SM pedigree was also performed to investigate the KRT17 gene mutation and genotype‑phenotype correlation. Exon 1 of the KRTl7 gene was amplified using polymerase chain reaction (PCR) from genomic DNA obtained, which was obtained from 25 family members in the selected Chinese pedigree and from 100 unrelated control individuals. The DNA was then subjected to automatic DNA sequencing. Genealogical investigations demonstrated an autosomal dominant pattern, and direct sequencing of the PCR product revealed a heterozygous mutation, c.280C/T (R94C), which was located in exon 1 of the KRT17 gene in all 10 affected family members. The mutation was not identified in the 15 unaffected family members or in the 100 unrelated control individuals. Therefore, the present study identified a causative mutation in the KRT17 gene in a large Chinese SM pedigree, exhibiting autosomal dominance. A review of the literature suggested that, in addition to the mutation factor, other modifying factors contribute to the phenotype of familial SM.

Show MeSH
Related in: MedlinePlus