A Rare Inherited Bone Marrow Failure Syndrome Disclosed by Reanalysis of the Exome Data of a Patient Evaluated for Cytopenia and Dysmorphic Features

Author:

Durmaz Durmus1,Aslanger Ayca Dilruba1,Yavas Abali Zehra12,Yilmaz Yasin3,Karaman Volkan1,Yesil Sayin Gozde1,Toksoy Guven1,Unuvar Aysegul3,Uyguner Zehra Oya1

Affiliation:

1. Department of Medical Genetics, Istanbul Faculty of Medicine

2. Institute of Health Sciences

3. Division of Pediatric Hematology and Oncology, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey

Abstract

Background: Multisystemic findings of inherited bone marrow failure syndromes may cause difficulty in diagnosis. Exome sequencing (ES) helps to define the etiology of rare diseases and reanalysis offers a valuable new diagnostic approach. Herein, we present the clinical and molecular characteristics of a girl who was referred for cytopenia and frequent infections. Case report: A 5-year-old girl with cytopenia, dysmorphism, short stature, developmental delay, and myopia was referred for genetic counseling. Reanalysis of the ES data revealed a homozygous splice-site variant in the DNAJC21 (NM_001012339.3:c.983+1G>A), causing Shwachman-Diamond Syndrome (SDS). It was shown by the RNA sequencing that exon 7 was skipped, causing an 88-nucleotide deletion. Conclusions: Precise genetic diagnosis enables genetic counseling and improves patient management by avoiding inappropriate treatment and unnecessary testing. This report would contribute to the clinical and molecular understanding of this rare type of SDS caused by DNAJC21 variants and expand the phenotypic features of this condition.

Publisher

Ovid Technologies (Wolters Kluwer Health)

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