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Neurology Genetics
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February 2023; 9 (1) Clinical/Scientific NoteOpen Access

Neurodevelopmental Disorder, Obesity, Pancytopenia, Diabetes Mellitus, Cirrhosis, and Renal Failure in ACBD6-Associated Syndrome

A Case Report

Patra Yeetong, Natthaporn Tanpowpong, Supphakorn Rakwongkhachon, Kanya Suphapeetiporn, Vorasuk Shotelersuk
First published November 29, 2022, DOI: https://doi.org/10.1212/NXG.0000000000200046
Patra Yeetong
From the Division of Human Genetics (P.Y.), Department of Botany, Faculty of Science, Chulalongkorn University; Department of Radiology (N.T.), Faculty of Medicine, Chulalongkorn University; Genetics Program (S.R.), Division of Human Genetics, Department of Botany, Faculty of Science, Chulalongkorn University; Center of Excellence for Medical Genomics (K.S., V.S.), Medical Genomics Cluster, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University; and Excellence Center for Genomics and Precision Medicine (K.S., V.S.), King Chulalongkorn Memorial Hospital, the Thai Red Cross Society, Bangkok, Thailand.
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Natthaporn Tanpowpong
From the Division of Human Genetics (P.Y.), Department of Botany, Faculty of Science, Chulalongkorn University; Department of Radiology (N.T.), Faculty of Medicine, Chulalongkorn University; Genetics Program (S.R.), Division of Human Genetics, Department of Botany, Faculty of Science, Chulalongkorn University; Center of Excellence for Medical Genomics (K.S., V.S.), Medical Genomics Cluster, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University; and Excellence Center for Genomics and Precision Medicine (K.S., V.S.), King Chulalongkorn Memorial Hospital, the Thai Red Cross Society, Bangkok, Thailand.
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Supphakorn Rakwongkhachon
From the Division of Human Genetics (P.Y.), Department of Botany, Faculty of Science, Chulalongkorn University; Department of Radiology (N.T.), Faculty of Medicine, Chulalongkorn University; Genetics Program (S.R.), Division of Human Genetics, Department of Botany, Faculty of Science, Chulalongkorn University; Center of Excellence for Medical Genomics (K.S., V.S.), Medical Genomics Cluster, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University; and Excellence Center for Genomics and Precision Medicine (K.S., V.S.), King Chulalongkorn Memorial Hospital, the Thai Red Cross Society, Bangkok, Thailand.
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Kanya Suphapeetiporn
From the Division of Human Genetics (P.Y.), Department of Botany, Faculty of Science, Chulalongkorn University; Department of Radiology (N.T.), Faculty of Medicine, Chulalongkorn University; Genetics Program (S.R.), Division of Human Genetics, Department of Botany, Faculty of Science, Chulalongkorn University; Center of Excellence for Medical Genomics (K.S., V.S.), Medical Genomics Cluster, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University; and Excellence Center for Genomics and Precision Medicine (K.S., V.S.), King Chulalongkorn Memorial Hospital, the Thai Red Cross Society, Bangkok, Thailand.
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Vorasuk Shotelersuk
From the Division of Human Genetics (P.Y.), Department of Botany, Faculty of Science, Chulalongkorn University; Department of Radiology (N.T.), Faculty of Medicine, Chulalongkorn University; Genetics Program (S.R.), Division of Human Genetics, Department of Botany, Faculty of Science, Chulalongkorn University; Center of Excellence for Medical Genomics (K.S., V.S.), Medical Genomics Cluster, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University; and Excellence Center for Genomics and Precision Medicine (K.S., V.S.), King Chulalongkorn Memorial Hospital, the Thai Red Cross Society, Bangkok, Thailand.
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Citation
Neurodevelopmental Disorder, Obesity, Pancytopenia, Diabetes Mellitus, Cirrhosis, and Renal Failure in ACBD6-Associated Syndrome
A Case Report
Patra Yeetong, Natthaporn Tanpowpong, Supphakorn Rakwongkhachon, Kanya Suphapeetiporn, Vorasuk Shotelersuk
Neurol Genet Feb 2023, 9 (1) e200046; DOI: 10.1212/NXG.0000000000200046

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Abstract

Objectives Neurodevelopmental disorders (NDDs) are a group of conditions that are clinically and etiologically heterogeneous. Biallelic variants in ACBD6 were previously reported in 7 patients with NDDs. Unfortunately, their clinical information remains very limited with descriptions of only their neurologic and craniofacial features. The purpose of this report is to expand the clinical phenotype of the ACBD6-associated NDDs.

Methods We identified 2 Thai siblings with NDDs. Clinical and radiologic features of the proband were described. The affected siblings and parents underwent whole-exome sequencing and PCR-Sanger sequencing.

Results Clinical manifestations that have never been previously reported include morbid obesity, pancytopenia with severe infections, diabetes mellitus, cirrhosis, and renal failure, leading to deaths in their early 30s. Molecular studies identified a novel homozygous 1 base-pair duplication (c.360dup; p.Leu121Thrfs*27) in the ACBD6 gene.

Discussion This study reported 1 novel single base-pair duplication, expanding the mutational spectrum, and described the clinical features establishing the entity of ACBD6-associated NDDs.

Footnotes

  • Funding information and disclosures are provided at the end of the article. Full disclosure form information provided by the authors is available with the full text of this article at Neurology.org/NG.

  • The Article Processing Charge was funded by Chulalongkorn University.

  • Submitted and externally peer reviewed. The handling editor was Suman Jayadev, MD.

  • Received July 18, 2022.
  • Accepted in final form October 12, 2022.
  • Copyright © 2022 The Author(s). Published by Wolters Kluwer Health, Inc. on behalf of the American Academy of Neurology.

This is an open access article distributed under the terms of the Creative Commons Attribution-NonCommercial-NoDerivatives License 4.0 (CC BY-NC-ND), which permits downloading and sharing the work provided it is properly cited. The work cannot be changed in any way or used commercially without permission from the journal.

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