Townes–Brocks syndrome with adult renal impairment in a Chinese family:A case report

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.

Hepatocyte nuclear factor 1B mutation in a Chinese family with renal cysts and diabetes syndrome:A case report

BACKGROUND Renal cysts and diabetes(RCAD)syndrome is an autosomal dominant diabetic renal disease.Precise molecular diagnosis of RCAD syndrome has proven valuable for understanding its mechanism and personalized therapy.CASE SUMMARY A RCAD patient and her family were studied to investigate potential responsible genes by the whole exome sequencing(WES).Candidate pathogenic variants were validated by Sanger sequencing.The clinical characteristics of RCAD patient were collected from medical records.Unlike those typical RCAD patients,we observed renal manifestation and prediabetes phenotype,but not reproductive organ phenotype and hypomagnesaemia.A novel 7-bp deletion mutation in exon 4 of the hepatocyte nuclear factor 1B,NM_000458:c.882_888del(p.V294fs),was identified by WES and confirmed by Sanger sequencing.CONCLUSION This novel mutation identified in a Chinese family with RCAD syndrome might be the molecular pathogenic basis of this disorder.