Mutations in NR5A1 have been reported as a frequent cause of 46,XY disorders of sex development (DSD) associated to a broad phenotypic spectrum ranging from infertility, ambiguous genitalia, anorchia to gonadal dygenesis and female genitalia. Here we present the clinical follow up of four 46,XY DSD patients with three novel heterozygous mutations in the NR5A1 gene leading to a p.T40P missense m...

A novel SCN5A mutation was found in a child with congenital sick sinus disease, a Brugada-like electrocardiogram and recurrent aborted sudden death. The mutation (L1821fs/10) is a 4 base pair deletion (TCTG) at position 5464-5467 in exon 28 of the gene. The novel mutation is predicted to produce a frameshift leading to a premature stop codon after ten missense amino acids upstream that did not ...

OBJECTIVE This study aimed at identifing mutations in two Chinese genealogies with MEN1. SUBJECTS AND METHODS Three members of two Chinese families with MEN1 were enrolled in this study, and all of the coding regions and adjacent sequences of the MEN1 gene were amplified and sequenced. RESULTS A recurrent mutation of heterozygous change T>A at IVS 4+1 was found in family I, and a novel insG...

Oculocerebrorenal syndrome, also known as Lowe syndrome, is an X-linked recessive disorder that predominantly affects males and is characterized by growth and mental retardation, congenital cataract and renal Fanconi syndrome. OCRL1 is the gene responsible for Lowe syndrome and encodes an inositol polyphosphate-5-phosphatase. We present an 11-year-old boy with Lowe syndrome, who had a de novo f...

Objective(s): Jervell and Lange–Nielsen syndrome is an autosomal recessive disorder caused by mutations in KCNQ1 or KCNE1 genes. The disease is characterized by sensorineural hearing loss and long QT syndrome. Methods: Here we present a 3.5-year-old female patient, an offspring of consanguineous marriage, who had a history of recurrent syncope and congenital sensorineural deafness. The patient ...

Werner syndrome, also called adult progeria, is a heritable autosomal recessive human disorder characterized by the premature onset of numerous age-related diseases including juvenile cataracts, dyslipidemia, diabetes mellitus (DM), osteoporosis, atherosclerosis, and cancer. syndrome segmental progeroid whose presentation resembles accelerated aging. The most common causes death for WS patients...

Clustered regularly interspaced palindromic repeats (CRISPR)/Cas-based adaptive immunity against pathogens in bacteria has been adapted for genome editing and applied in zebrafish (Danio rerio) to generate frameshift mutations in protein-coding genes. Although there are methods to detect, quantify and sequence CRISPR/Cas9-induced mutations, identifying mutations in F1 heterozygous fish remains ...