Dehydrated hereditary stomatocytosis with new missense mutations in PIEZO1 through the use of next-generation sequencing panel

Sultan Aydin Koker; Tuba  Karapınar; Paola BIANCHI; Yeşim Oymak; Elisa Fermo; Canan Vergin

doi:10.22541/au.163955457.78063581/v1

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Dehydrated hereditary stomatocytosis with new missense mutations in PIEZO1 through the use of next-generation sequencing panel

Sultan Aydin Koker,
Tuba Karapınar,
Paola BIANCHI,
Yeşim Oymak,
Elisa Fermo,
Canan Vergin

Abstract

In this case study, we report an 11-year-old male patient who had jaundice, hepatosplenomegaly, and chronic mild congenital non-autoimmune hemolytic anemia. In our patient, a novel homozygous missense mutation in the PIEZO1 gene was detected using a gene-targeted Next-Generation Sequencing panel: c.3364G>A (p.Glu1122Lys), confirming the diagnosis of DHS.

30 Nov 2021Submitted to Clinical Case Reports

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06 Dec 2021Submission Checks Completed

06 Dec 2021Assigned to Editor

15 Dec 2021Reviewer(s) Assigned

27 Dec 2021Review(s) Completed, Editorial Evaluation Pending

04 Jan 2022Editorial Decision: Revise Minor

01 Mar 20221st Revision Received

02 Mar 2022Submission Checks Completed

02 Mar 2022Assigned to Editor

02 Mar 2022Review(s) Completed, Editorial Evaluation Pending

02 Apr 2022Editorial Decision: Revise Minor

24 Apr 20222nd Revision Received

26 Apr 2022Submission Checks Completed

26 Apr 2022Assigned to Editor

26 Apr 2022Review(s) Completed, Editorial Evaluation Pending

20 May 2022Editorial Decision: Revise Minor

23 Jul 20223rd Revision Received

Abstract

Peer review status:IN REVISION