A Case of McLeod Syndrome with A Novel XK Missense Mutation

Komiya, Hiroyasu; Takasu, Mutsuki; Hashiguchi, Shunta; Uematsu, Eri; Fukai, Ryoko; Tanaka, Kenichi; Tada, Mikiko; Joki, Hideto; Takahashi, Tatsuya; Koyano, Shigeru; Doi, Hiroshi; Takeuchi, Hideyuki; Tanaka, Fumiaki

doi:10.1002/mdc3.12614

Cited by 3 publications

(8 citation statements)

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“…MLS is an X-linked disease caused by the loss or dysfunction of the XK protein due to loss-of-function mutations in the XK gene on the X chromosome. [1][2][3] Based on exon sequencing analysis, we found a previously unreported frameshift mutation in exon 2 (c.452delA), resulting in amino acid residue conversion from Gln151 to Arg151. Consequently, the next triplet of bases is turned into a terminator.…”

Section: Discussionmentioning

confidence: 99%

“…Its neighboring locus 451 was reported to have a base-duplicated mutation [4] ; hence, further studies are needed to determine the mutational landscape of this region. It has been established that there are 39 types of XK gene mutations that can cause hematologic phenotypes and MLS, [1][2][3]5] among which there are 2 frameshift mutations including loci 195-198 CCGC deletion and loci 640-645 TGGAGG deletion. [1] Both were series base deletions.…”

Section: Discussionmentioning

confidence: 99%

“…McLeod syndrome (MLS) is part of the spectrum of neuroacanthocytosis syndrome that affects the peripheral and central nervous systems, erythrocytes, and internal organs. It is defined as a rare X-linked disorder; however, variations in the XK gene await elucidation [1–3] . In this report, we present the clinical phenotype and genetic features of a family with MLS caused by a novel frameshift mutation in XK .…”

Section: Introductionmentioning

confidence: 97%

“…It is defined as a rare X-linked disorder; however, variations in the XK gene await elucidation. [1][2][3] In this report, we present the clinical phenotype and genetic features of a family with MLS caused by a novel frameshift mutation in XK.…”

Section: Introductionmentioning

confidence: 99%

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McLeod syndrome with a novel XK frameshift mutation

Xia

Fan

et al. 2022

Medicine

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Rationale:McLeod syndrome (MLS) is a rare X-linked neurohematologic disorder caused by loss-of-function mutations in the XK gene. However, variations in the XK gene remain to be elucidated. Here, we report the clinical phenotype and genetic features of a patient with MLS caused by a novel frameshift mutation in the XK gene.Patient concerns:A 44-year-old man presented with chorea, cognitive impairment, mental disorders, and seizures accompanied by peripheral neuropathy, hyperCKemia, and acanthocytosis. The proband's mother had a mild chorea. One older brother who died 10 years ago without a confirmed diagnosis showed symptoms of both chorea and mental disorders, while the other brother also developed mild chorea.Diagnosis:The patient was diagnosed with MLS based on the family history, clinical manifestations, and accessory examinations. Whole-exome sequencing studies revealed a novel frameshift mutation resulting from a nucleotide variation in exon 2 (452delA) that leads to an amino acid residue conversion from Gln to Arg and early termination of the XK protein (Gln151ArgfsTer2). The patient and one of his older brothers were hemizygotes, and his mother was heterozygous.Interventions:The patient was treated with haloperidol to control chorea and levetiracetam to control seizures.Outcomes:Six months after treatment, the proband was seizure-free, but showed little improvement in chorea and cognitive dysfunction.Lesson:We describe a family with MLS caused by a novel frameshift mutation in the XK gene. The causes of the mild clinical presentation in the proband's mother require further investigation.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 97%

Section: Introductionmentioning

confidence: 99%

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McLeod syndrome with a novel XK frameshift mutation

Xia

Fan

et al. 2022

Medicine

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“…Most patients with the McLeod phenotype related to the absence of Kx antigen on RBCs and a weak expression of Kell antigens (which is incidentally found during a routine blood test), acanthocytosis and elevated CPK level develop full MLS (Allen et al, 1961;Jung et al, 2007Jung et al, , 2004Komiya et al, 2018) Tab. 2.…”

Section: Mlsmentioning

confidence: 99%

Neuropsychiatric and neuropsychological deficits in a 33-year-old woman with chorea-acanthocytosis. A case report and a literature review

Pawełczyk¹,

Jastrzębski²,

Radek³

et al. 2019

Aktualn Neurol

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Neuroacanthocytosis -phenotypically and genetically heterogeneous disorders associated with acanthocytosis -are a group of abnormalities which affect the basal ganglion, causing movement disorders, other neurological symptoms and also cognitive and neuropsychiatric impairments. There are few reports on neuropsychiatric and neuropsychological symptom development in the course of the disease. We described a 33-year-old female patient, who was diagnosed with choreaacanthocytosis associated with neurological, psychiatric and neuropsychological disorders. The neurological disorders included increasing involuntary movements of face and tongue, upper limb chorea, dysarthric speech, slight upper limb deep reflexes, vivid knee jerks, tonic-clonic seizures and absence of Achilles reflexes. Psychiatrically, she was depressed and presented with obsessive thinking. Neuropsychological assessment revealed increasing dysfunctions of attention, immediate memory, learning, verbal fluency, praxia, calculia and difficulties in adjusting behaviour to environmental conditions and in flexible correction of wrong responses. Neuropsychiatric and neuropsychological dysfunctions should be considered in the differential diagnosis to ensure proper diagnosis and management, especially when differentiating disorders in patients with neuropsychiatric symptoms, chorea, or in the case of late (in adulthood) onset of Tourette's syndrome.

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A Novel c.459_460insC Variation in the XK Gene Associated with McLeod Syndrome

Zhang,

Yu,

Hong

et al. 2024

Transfus Med Hemother

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Introduction: McLeod syndrome (MLS) is a rare X-linked recessive disorder affecting multiple systems. Herein, we present the clinical symptoms, laboratory diagnostic results, and genetic characteristics of a patient with MLS caused by a novel c.459_460insC variation in the XK gene. Case Presentation: A 58-year-old male Chinese patient presented with neurological symptoms, seeking belated medical attention at the hospital. Numerous laboratory tests indicated a high likelihood of MLS, featuring chronic granulomatosis and neuroacanthocytosis. The patient’s blood samples were sent to the Blood Center of Zhejiang Province, China, for further analysis. Sequencing analysis revealed a novel hemizygous c.459_460insC variation in exon 2 of the XK gene. Therefore, we identified a patient with MLS possessing a novel genetic variation (GenBank Accession No. OQ473658). Conclusion: Our findings elucidate a novel c.459_460insC variation associated with MLS, resulting in a frameshift and premature stop codon (p.Leu154Profs*45). The clinical manifestations, laboratory examination, and XK gene analysis in this case will aid in diagnosing MLS in future patients.

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A Case of McLeod Syndrome with A Novel XK Missense Mutation

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Cited by 3 publications

References 10 publications

McLeod syndrome with a novel XK frameshift mutation

McLeod syndrome with a novel XK frameshift mutation

Neuropsychiatric and neuropsychological deficits in a 33-year-old woman with chorea-acanthocytosis. A case report and a literature review

A Novel c.459_460insC Variation in the <i>XK</i> Gene Associated with McLeod Syndrome

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