Compound Heterozygosity in Cerebellar Ataxia, Mental Retardation, and Disequilibrium Syndrome Type 4-Reference-Cited by-同舟云学术

Compound Heterozygosity in Cerebellar Ataxia, Mental Retardation, and Disequilibrium Syndrome Type 4

Published:2023-12-01 Issue:3 Volume:44 Page:85-90
ISSN:1857-8985
Container-title:PRILOZI
language:en
Short-container-title:

Author:

Teov Bojan¹,Janchevska Aleksandra¹,Beqiri-Jasari Ardiana¹,Tasic Velibor¹,Kungulovski Goran²,Gucev Zoran¹

Affiliation:

1. 1 University Children’s Hospital , Medical Faculty Skopje , North Macedonia

2. 2 Bio Engineering LLC , Skopje , North Macedonia

Abstract

Abstract Cerebellar ataxia, mental retardation, and disequilibrium syndrome (CAMRQ) is a genetically and clinically heterogeneous disorder with four described subtypes. Autosomal recessive syndrome of cerebellar ataxia, mental retardation, and disequilibrium type 4 (CAMRQ4) is caused by mutations in the ATP8A2 gene. We report an 8-year-old boy with choreoathetosis, hypotonia, without the ability to keep his head up and profound mental retardation. There was quadrupedal locomotion, as well. MRI of the brain revealed a hypotrophy of the corpus callosum, diffuse white matter reduction, widespread delayed myelination and ventriculomegaly. Trio whole-exome sequencing revealed compound heterozygosity in the ATP8A2 gene consisting of a known variant c.1756C>T (p.Arg586*) inherited from the mother and a novel variant c.691_701delCTGATGAAGTT (p.Leu231fs) inherited from the father. CAMRQ type 4 has been found in about 50 patients. To the best of our knowledge, this is the first reported patient with CAMRQ4 with these gene variants. The clinical presentation is severe.

Publisher

Walter de Gruyter GmbH

Link

https://www.sciendo.com/pdf/10.2478/prilozi-2023-0051

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