ESPN 54th Annual Meeting

ESPN 2022


 
A STROMME SYNDROME PATIENT WITH END STAGE RENAL DISEASE AND A NOVEL PATHOGENIC VARIANT IN CENPF GENE
DEMET ALAYGUT 1 BERK ÖZYILMAZ 2 ÖZGÜR ÖZDEMİR ŞİMŞEK 1 GÖKÇEN ERFİDAN 1 SEÇİL ARSLANSOYU ÇAMLAR 1 BELDE KASAP DEMİR 3 FATMA MUTLUBAS 1

1- UNIVERSITY OF HEALTH SCIENCES TEPECIK TRAINING AND RESEARCH HOSPITAL DEPARTMENT OF PEDIATRIC NEPHROLOGY
2- UNIVERSITY OF HEALTH SCIENCES TEPECIK TRAINING AND RESEARCH HOSPITAL DEPARTMENT OF GENETIC DISEASES EVALUATION CENTER
3- KATIP CELEBI UNIVERSITY FACULTY OF MEDICINE DEPARTMENT OF PEDIATRIC NEPHROLOGY AND RHEUMATOLOGY
 
Introduction:

 Stromme syndrome is an autosomal recessive congenital disorder involving multiple systems that shares clinical features with ciliopathies. Here, we report a girl with a novel homozygous pathogenic variant in CENPF gene, presented with end stage renal diseases (ESRD) with Stromme syndrome clinical features.

Material and methods:

 An 8-year-old girl was admitted with anemia, growth retardation and metabolic acidosis. (Urea: 173 mg/dl, Cre: 10 mg/dl, PTH: 947, Ca 6.6 mg/dl, P 8.3 mg/dl, K 5.95, Hb: 7.5 g/dL HCO3 : 12 9 . She was hypertensive (170/100 mmHg). Weight was 26 kg (25-50 p, -0.43 SDS), height was 114 cm (< 3p, -2.93 SDS), head circumference was 43 cm (< 3p, -6.27 SDS), dysmorphic facial appearance was present. Emergency hemodialysis was performed. She was investigated for the etiology of chronic kidney disease. C3 and C4 levels were found to be normal. Tubular tests  were  defective (Pro/ Cre: 3.2 mg/mg, FeNa 8.2, FeK 59.8, TPR: 51%). Microcephaly, mega cisterna magna, hypoplasia in the right cerebellar hemisphere were detected due to cranial MRI. Posterior embryotoxon was detected in the left eye. For the molecular genetic evaluation of the patient, SNP microarray analysis was performed at fist-step and no clinically significant variant was detected. 

Results:

 For further evaluation, WES  was performed. The patient was found to carry a homozygous c.117del (p.Gln40SerfsTer26) variant in (ENST00000366955.3) CENPF gene. This variant was not previously reported in databases or literature and according to the ACMG criteria (PVS1, PM2, PP3) it was interpreted as a novel “Pathogenic” variant.

Conclusions:

 The centromeric protein F (CENPF) human ciliopathy gene was included in the ciliopathy-related diseases group in 2016. By writing this report we have contributed to the literature by presenting a Stromme Syndrome patient with end stage renal disease and a novel pathogenic variant in CENPF gene.