In xeroderma pigmentosum, a rare genodermatosis, transmitted as an autosomal recessive disorder, excessive solar damage to the skin develops at an early age. The disease is characterized by cutaneous, ocular, neurolog...In xeroderma pigmentosum, a rare genodermatosis, transmitted as an autosomal recessive disorder, excessive solar damage to the skin develops at an early age. The disease is characterized by cutaneous, ocular, neurological and oral changes. Oral features in the form of early development of Squamous cell carcinoma, usually at the lower lip and tip of the tongue may be seen. The disorder is associated more commonly in populations where marriage of close blood relatives is common. Treatment of the disorder includes avoidance of Ultra violet radiation, topical application of 5 fluorouracil to treat actinic keratoses, and regular evaluation by an optholmologist, dermatologist, and neurologist. Genetic counseling is an important aspect as an increased incidence of consanguineous marriages have been reported with this disorder. Here, we report an interesting case of xeroderma pigmentosum in an 18 year old male patient who presented with characterstic desquamation of gingiva, fissured tongue and geoghraphic tongue.展开更多
In the present review, we describe the most importantaspects of the X-linked ichthyosis(XLI) and make a compilation of the some historic details of the disease. The aim of the present study is an update of the XLI. Hi...In the present review, we describe the most importantaspects of the X-linked ichthyosis(XLI) and make a compilation of the some historic details of the disease. The aim of the present study is an update of the XLI. Historical, clinical, epidemiological, and molecular aspects are described through the text. Recessive XLI is a relatively common genodermatosis affecting different ethnic groups. With a high spectrum of the clinical manifestations due to environmental factors, the disease has a genetic heterogeneity that goes from a point mutation to a large deletion involving several genes to produce a contiguous gene syndrome. Most XLI patients harbor complete STS gene deletion and flanked sequences; seven intragenic deletions and 14 point mutations with a complete loss of the steroid sulfatase activity have been reported worldwide. In this study, we review current knowledge about the disease.展开更多
Objective:Biallelic mutations in the RecQ like helicase(RECQL)4 gene,a guardian of the genome,cause Rothmund-Thomson syndrome type II(RTS-II).Two Chinese girls with mild-phenotype RTS-II mainly restricted to their ski...Objective:Biallelic mutations in the RecQ like helicase(RECQL)4 gene,a guardian of the genome,cause Rothmund-Thomson syndrome type II(RTS-II).Two Chinese girls with mild-phenotype RTS-II mainly restricted to their skin are herein described.Methods:Blood specimens from two families with mild-phenotype RTS-II were collected.DNA isolation,RNA isolation and complementary DNA synthesis,and next-generation sequencing using a multi-gene panel were applied to verify the underlying pathogenic variants in the causativeRECQL4 gene.Results:We analyzed two patients with mild phenotypes.One patient had an unreported paternal c.2885+1G>A alteration in intervening sequence 16 and the previously reported maternal exon 14 c.2272C>T(p.R758X),both resulting in premature termination codons.The other patient carried two novel alterations,c.2886-1G>A and c.2752G>T(p.E918X).Complementary DNA sequencing showed that different splice-site mutations within the same intron could lead to completely different splicing modes.Conclusion:We identified three novel pathogenicRECQL4 variants in two patients with RTS,thus expanding the mutational spectrum of RTS-II.We also explored their pathogenic effect by transcripts analysis to address genotype-phenotype correlations.展开更多
文摘In xeroderma pigmentosum, a rare genodermatosis, transmitted as an autosomal recessive disorder, excessive solar damage to the skin develops at an early age. The disease is characterized by cutaneous, ocular, neurological and oral changes. Oral features in the form of early development of Squamous cell carcinoma, usually at the lower lip and tip of the tongue may be seen. The disorder is associated more commonly in populations where marriage of close blood relatives is common. Treatment of the disorder includes avoidance of Ultra violet radiation, topical application of 5 fluorouracil to treat actinic keratoses, and regular evaluation by an optholmologist, dermatologist, and neurologist. Genetic counseling is an important aspect as an increased incidence of consanguineous marriages have been reported with this disorder. Here, we report an interesting case of xeroderma pigmentosum in an 18 year old male patient who presented with characterstic desquamation of gingiva, fissured tongue and geoghraphic tongue.
文摘In the present review, we describe the most importantaspects of the X-linked ichthyosis(XLI) and make a compilation of the some historic details of the disease. The aim of the present study is an update of the XLI. Historical, clinical, epidemiological, and molecular aspects are described through the text. Recessive XLI is a relatively common genodermatosis affecting different ethnic groups. With a high spectrum of the clinical manifestations due to environmental factors, the disease has a genetic heterogeneity that goes from a point mutation to a large deletion involving several genes to produce a contiguous gene syndrome. Most XLI patients harbor complete STS gene deletion and flanked sequences; seven intragenic deletions and 14 point mutations with a complete loss of the steroid sulfatase activity have been reported worldwide. In this study, we review current knowledge about the disease.
基金National Nature Science Foundation of China(Nos.82073422 and 81874239)Shanghai Health System Excellent Academic Leader Training Project(No.2018BR22)Pujiang Talents Program(No.18PJ1407300)。
文摘Objective:Biallelic mutations in the RecQ like helicase(RECQL)4 gene,a guardian of the genome,cause Rothmund-Thomson syndrome type II(RTS-II).Two Chinese girls with mild-phenotype RTS-II mainly restricted to their skin are herein described.Methods:Blood specimens from two families with mild-phenotype RTS-II were collected.DNA isolation,RNA isolation and complementary DNA synthesis,and next-generation sequencing using a multi-gene panel were applied to verify the underlying pathogenic variants in the causativeRECQL4 gene.Results:We analyzed two patients with mild phenotypes.One patient had an unreported paternal c.2885+1G>A alteration in intervening sequence 16 and the previously reported maternal exon 14 c.2272C>T(p.R758X),both resulting in premature termination codons.The other patient carried two novel alterations,c.2886-1G>A and c.2752G>T(p.E918X).Complementary DNA sequencing showed that different splice-site mutations within the same intron could lead to completely different splicing modes.Conclusion:We identified three novel pathogenicRECQL4 variants in two patients with RTS,thus expanding the mutational spectrum of RTS-II.We also explored their pathogenic effect by transcripts analysis to address genotype-phenotype correlations.
