BACKGROUND Approximately 10%of adults and nearly all children who receive renal replacement therapy have inherited risk factors or are related to genetic factors.In the past,due to the limitations of detection technol...BACKGROUND Approximately 10%of adults and nearly all children who receive renal replacement therapy have inherited risk factors or are related to genetic factors.In the past,due to the limitations of detection technology and the nonspecific manifestations of uraemia,the etiological diagnosis is unclear.In addition to common monogenic diseases and complex disorders,advanced testing techniques have led to the recognition of more hereditary renal diseases.Here,we report a four-generation Chinese family in which four individuals had a novel SALL1 mutation and presented with uraemia or abnormal urine tests.CASE SUMMARY A 32-year-old man presented with end-stage renal disease with a 4-year history of dialysis.His father and paternal aunt both had a history of unexplained renal failure with haemodialysis,and his 10-year-old daughter presented with proteinuria.The patient had multiple congenital abnormalities,including bilateral overlapping toes,unilateral dysplastic external ears,and sensorineural hearing loss.His family members also presented with similar defects.Genetic testing revealed that the proband carried a novel heterozygous shift mutation in SALL1_exon 2(c.3437delG),and Sanger sequencing confirmed the same mutation in all affected family members.CONCLUSION We report a novel SALL1 exon 2(c.3437delG)mutation and clinical syndrome with kidney disease,bilateral overlapping toes,unilateral dysplastic external ears,and sensorineural hearing loss in a four-generation Chinese family.展开更多
BACKGROUND Townes–Brocks syndrome(TBS)is a rare autosomal dominant syndrome that is characterized by a triad of imperforate anus,dysplastic ears,and thumb malformations.Heterozygous variants of SALL1 are responsible ...BACKGROUND Townes–Brocks syndrome(TBS)is a rare autosomal dominant syndrome that is characterized by a triad of imperforate anus,dysplastic ears,and thumb malformations.Heterozygous variants of SALL1 are responsible for this syndrome.Renal structural abnormalities and functional impairments are often reported in TBS patients.CASE SUMMARY We report a case of TBS in a Chinese family.The index patients showed obvious renal atrophy and renal failure.TBS was suggested after a physical examination and pedigree analysis.Whole exome sequencing revealed a heterozygous variant of SALL1.The variant(NM_001127892 c.1289_c.1290 insC)led to a read-frame shift of the encoded protein,which was confirmed by Sanger sequencing.The variant cosegregated with the phenotype among affected members.CONCLUSION A novel variant in SALL1 gene may be the molecular pathogenic basis of this disorder.展开更多
基金Supported by Zhejiang Provincial Natural Science Foundation of China,No.LQ19H050003General Project Funds from the Health Department of Zhejiang Province,No.2020KY439.
文摘BACKGROUND Approximately 10%of adults and nearly all children who receive renal replacement therapy have inherited risk factors or are related to genetic factors.In the past,due to the limitations of detection technology and the nonspecific manifestations of uraemia,the etiological diagnosis is unclear.In addition to common monogenic diseases and complex disorders,advanced testing techniques have led to the recognition of more hereditary renal diseases.Here,we report a four-generation Chinese family in which four individuals had a novel SALL1 mutation and presented with uraemia or abnormal urine tests.CASE SUMMARY A 32-year-old man presented with end-stage renal disease with a 4-year history of dialysis.His father and paternal aunt both had a history of unexplained renal failure with haemodialysis,and his 10-year-old daughter presented with proteinuria.The patient had multiple congenital abnormalities,including bilateral overlapping toes,unilateral dysplastic external ears,and sensorineural hearing loss.His family members also presented with similar defects.Genetic testing revealed that the proband carried a novel heterozygous shift mutation in SALL1_exon 2(c.3437delG),and Sanger sequencing confirmed the same mutation in all affected family members.CONCLUSION We report a novel SALL1 exon 2(c.3437delG)mutation and clinical syndrome with kidney disease,bilateral overlapping toes,unilateral dysplastic external ears,and sensorineural hearing loss in a four-generation Chinese family.
基金Supported by Joint Medical Project of Science and Technology Commission of Chongqing,No.2021MSXM164.
文摘BACKGROUND Townes–Brocks syndrome(TBS)is a rare autosomal dominant syndrome that is characterized by a triad of imperforate anus,dysplastic ears,and thumb malformations.Heterozygous variants of SALL1 are responsible for this syndrome.Renal structural abnormalities and functional impairments are often reported in TBS patients.CASE SUMMARY We report a case of TBS in a Chinese family.The index patients showed obvious renal atrophy and renal failure.TBS was suggested after a physical examination and pedigree analysis.Whole exome sequencing revealed a heterozygous variant of SALL1.The variant(NM_001127892 c.1289_c.1290 insC)led to a read-frame shift of the encoded protein,which was confirmed by Sanger sequencing.The variant cosegregated with the phenotype among affected members.CONCLUSION A novel variant in SALL1 gene may be the molecular pathogenic basis of this disorder.
