Clinical features and mutational analysis of a case with Sensenbrenner syndrome / 中华医学遗传学杂志

ABSTRACT

<p><b>OBJECTIVE</b>To explore the clinical characteristics of a patient with Sensenbrenner syndrome (also called cranioectodermal dysplasia type 3) caused by mutation of intraflagellar transport (IFT) 43 gene.</p><p><b>METHODS</b>The clinical data of the patient was retrospectively analyzed. The target genes was the patient were captured and subjected to next generation sequencing. Suspected mutations were verified through Sanger sequencing.</p><p><b>RESULTS</b>The patient, a-13 year-and-5-month-old girl, was admitted for anemia and renal dysfunction for 8 months. Clinically, she has featured short stature, short limbs, brachydactylia, tooth agenesis, and retinal dystrophy, high-degree myopia, and chronic renal failure. Gene sequencing showed that she has carried a homozygous c.1A>G (p.M1V) mutation of the IFT43 gene, for which both of her parents were heterozygous carriers.</p><p><b>CONCLUSION</b>c.1A>G (p.M1V) mutation of the C14ORF179/IFT43 gene is the cause for praecox chronic renal failure in children. Genetic testing can facilitate the diagnosis of this rare disorder. For affected families, prenatal diagnosis should be provided.</p>