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  1. Artikel: A novel variant in the GNE gene in a Malian patient presenting with distal myopathy.

    Kotioumbe, Mahamadou / Maiga, Alassane B / Bamba, Salia / Cissé, Lassana / Diarra, Salimata / Diallo, Salimata / Yalcouyé, Abdoulaye / Kané, Fousseyni / Diallo, Seybou H / Coulibaly, Dramane / Coulibaly, Thomas / Dembélé, Kékouta / Maiga, Boubacar / Guinto, Cheick O / Landouré, Guida

    Research square

    2024  

    Abstract: Background: GNE myopathy (GM) is a rare autosomal recessive disorder caused by variants in the : Case presentation: A 19-year-old male patient from a consanguineous family of Bambara ethnicity was seen for progressive walking difficulty and frequent ... ...

    Abstract Background: GNE myopathy (GM) is a rare autosomal recessive disorder caused by variants in the
    Case presentation: A 19-year-old male patient from a consanguineous family of Bambara ethnicity was seen for progressive walking difficulty and frequent falls. Neurological examination found distalmuscle weakness and atrophy and reduced tendon reflexes in four limbs. Electroneuromyography (ENMG) showed an axonal neuropathy pattern with reduced distal motor amplitudes. Charcot-Marie-Tooth (CMT) gene panel testing (Medical Neurogenetics LLC, Atlanta, GA) was negative. However, whole exome sequencing (WES) revealed a novel biallelic variant in
    Conclusion: This study reports a novel variant in the
    Sprache Englisch
    Erscheinungsdatum 2024-03-07
    Erscheinungsland United States
    Dokumenttyp Preprint
    DOI 10.21203/rs.3.rs-4004982/v1
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

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  2. Artikel: A novel de novo variant in the

    Cissé, Lassana / Yalcouyé, Abdoulaye / Touré, Kadidia Oumar / Coulibaly, Youlouza / Maiga, Alassane Baneye / Bamba, Salia / Diallo, Dramane / Diarra, Salimata / Taméga, Abdoulaye / Traoré, Oumou / Kotioumbé, Mahamadou / Sangaré, Moussa Aly / Ba, Hamidou Oumar / Simaga, Assiatou / Koné, Fatogoma Issa / Samassekou, Oumar / Koné, Amadou / Guinto, Cheick Oumar / Landouré, Guida

    Clinical case reports

    2024  Band 12, Heft 2, Seite(n) e8551

    Abstract: Key clinical message: Cleidocranial dysplasia (CCD) is a rare genetic skeletal disorder with only few cases reported in Africa, mostly based on clinical and radiological findings. We report the first case in Mali, caused by a novel de novo variant in ... ...

    Abstract Key clinical message: Cleidocranial dysplasia (CCD) is a rare genetic skeletal disorder with only few cases reported in Africa, mostly based on clinical and radiological findings. We report the first case in Mali, caused by a novel de novo variant in the RUNX2 gene.
    Abstract: Cleidocranial dysplasia (CCD) is a rare autosomal dominant skeletal dysplasia characterized by an aplastic/hypoplastic clavicles, patent sutures and fontanels, dental abnormalities and a variety of other skeletal changes. We report a novel de novo variant in the
    Sprache Englisch
    Erscheinungsdatum 2024-02-26
    Erscheinungsland England
    Dokumenttyp Case Reports
    ZDB-ID 2740234-4
    ISSN 2050-0904
    ISSN 2050-0904
    DOI 10.1002/ccr3.8551
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

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  3. Artikel ; Online: AP2A2 mutation and defective endocytosis in a Malian family with hereditary spastic paraplegia.

    Diarra, Salimata / Ghosh, Saikat / Cissé, Lassana / Coulibaly, Thomas / Yalcouyé, Abdoulaye / Harmison, George / Diallo, Salimata / Diallo, Seybou H / Coulibaly, Oumar / Schindler, Alice / Cissé, Cheick A K / Maiga, Alassane B / Bamba, Salia / Samassekou, Oumar / Khokha, Mustafa K / Mis, Emily K / Lakhani, Saquib A / Donovan, Frank X / Jacobson, Steve /
    Blackstone, Craig / Guinto, Cheick O / Landouré, Guida / Bonifacino, Juan S / Fischbeck, Kenneth H / Grunseich, Christopher

    Neurobiology of disease

    2024  Band 198, Seite(n) 106537

    Abstract: Hereditary spastic paraplegia (HSP) comprises a large group of neurogenetic disorders characterized by progressive lower extremity spasticity. Neurological evaluation and genetic testing were completed in a Malian family with early-onset HSP. Three ... ...

    Abstract Hereditary spastic paraplegia (HSP) comprises a large group of neurogenetic disorders characterized by progressive lower extremity spasticity. Neurological evaluation and genetic testing were completed in a Malian family with early-onset HSP. Three children with unaffected consanguineous parents presented with symptoms consistent with childhood-onset complicated HSP. Neurological evaluation found lower limb weakness, spasticity, dysarthria, seizures, and intellectual disability. Brain MRI showed corpus callosum thinning with cortical and spinal cord atrophy, and an EEG detected slow background in the index patient. Whole exome sequencing identified a homozygous missense variant in the adaptor protein (AP) complex 2 alpha-2 subunit (AP2A2) gene. Western blot analysis showed reduced levels of AP2A2 in patient-iPSC derived neuronal cells. Endocytosis of transferrin receptor (TfR) was decreased in patient-derived neurons. In addition, we observed increased axon initial segment length in patient-derived neurons. Xenopus tropicalis tadpoles with ap2a2 knockout showed cerebral edema and progressive seizures. Immunoprecipitation of the mutant human AP-2-appendage alpha-C construct showed defective binding to accessory proteins. We report AP2A2 as a novel genetic entity associated with HSP and provide functional data in patient-derived neuron cells and a frog model. These findings expand our understanding of the mechanism of HSP and improve the genetic diagnosis of this condition.
    Sprache Englisch
    Erscheinungsdatum 2024-05-19
    Erscheinungsland United States
    Dokumenttyp Journal Article
    ZDB-ID 1211786-9
    ISSN 1095-953X ; 0969-9961
    ISSN (online) 1095-953X
    ISSN 0969-9961
    DOI 10.1016/j.nbd.2024.106537
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  4. Artikel ; Online: Novel variant in

    Yalcouyé, Abdoulaye / Rebelo, Adriana P / Cissé, Lassana / Rives, Lynette / Bamba, Salia / Cogan, Joy / Esoh, Kevin / Diarra, Salimata / Ezell, Kimberly M / Taméga, Abdoulaye / Guinto, Cheick O / Dohrn, Maike F / Hamid, Rizwan / Fischbeck, Kenneth H / Zuchner, Stephan / Landouré, Guida

    Brain communications

    2023  Band 5, Heft 5, Seite(n) fcad227

    Abstract: ... ...

    Abstract CADM3
    Sprache Englisch
    Erscheinungsdatum 2023-09-05
    Erscheinungsland England
    Dokumenttyp Journal Article
    ISSN 2632-1297
    ISSN (online) 2632-1297
    DOI 10.1093/braincomms/fcad227
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  5. Artikel ; Online: A monoallelic variant in EYA1 is associated with Branchio-Otic syndrome in a Malian family.

    Yalcouyé, Abdoulaye / Traoré, Oumou / Diarra, Salimata / Schrauwen, Isabelle / Esoh, Kevin / Kadlubowska, Magda Kamila / Bharadwaj, Thashi / Adadey, Samuel Mawuli / Kéita, Mohamed / Guinto, Cheick O / Leal, Suzanne M / Landouré, Guida / Wonkam, Ambroise

    Molecular genetics & genomic medicine

    2022  Band 10, Heft 7, Seite(n) e1995

    Abstract: Background: Branchio-otic syndrome (BO) is one of the most common types of syndromic hearing impairment (HI) with an incidence of 1/40,000 globally. It is an autosomal dominant disorder typically characterized by the coexistence of branchial cysts or ... ...

    Abstract Background: Branchio-otic syndrome (BO) is one of the most common types of syndromic hearing impairment (HI) with an incidence of 1/40,000 globally. It is an autosomal dominant disorder typically characterized by the coexistence of branchial cysts or fistulae, malformations of the external, middle, and inner ears with preauricular pits or tags and a variable degree of HI. Most cases of BO have been reported in populations of European ancestry. To date, only few cases have been reported in people from African descent.
    Methods: After a careful clinical examination, a pure tone audiometry was performed. DNA was extracted from peripheral blood and whole exome, and Sanger sequencing were performed for genetic analysis.
    Results: Eight individuals from a large non-consanguineous Malian family, with autosomal dominant inheritance were enrolled. The ages at diagnosis ranged from 8 to 54 years. A high phenotypic variability was noted among the affected individuals. Four patients presented with a post-lingual and mixed type of HI, one individual had conductive HI while three had normal hearing but presented other BO features namely branchial fistulae and preauricular sinus. Serum creatinine level and renal ultrasonography were normal in three affected individuals who performed them. Genetic testing identified a monoallelic pathogenic variant in EYA1 (c.1286A > G; p.Asp429Gly) segregating with BO syndrome in the family.
    Conclusion: This is the first genetically confirmed case of BO syndrome caused by EYA1 variant in the sub-Saharan African population, expanding the genetic spectrum of the condition.
    Mesh-Begriff(e) Adolescent ; Adult ; Branchio-Oto-Renal Syndrome ; Child ; Hearing Loss/genetics ; Humans ; Intracellular Signaling Peptides and Proteins/genetics ; Middle Aged ; Nuclear Proteins/genetics ; Pedigree ; Protein Tyrosine Phosphatases/genetics ; Young Adult
    Chemische Substanzen Intracellular Signaling Peptides and Proteins ; Nuclear Proteins ; EYA1 protein, human (EC 3.1.3.48) ; Protein Tyrosine Phosphatases (EC 3.1.3.48)
    Sprache Englisch
    Erscheinungsdatum 2022-06-14
    Erscheinungsland United States
    Dokumenttyp Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
    ZDB-ID 2734884-2
    ISSN 2324-9269 ; 2324-9269
    ISSN (online) 2324-9269
    ISSN 2324-9269
    DOI 10.1002/mgg3.1995
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

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  6. Artikel ; Online: GJB1 variants in Charcot-Marie-Tooth disease X-linked type 1 in Mali.

    Yalcouyé, Abdoulaye / Diallo, Seybou H / Cissé, Lassana / Karembé, Mamadou / Diallo, Salimata / Coulibaly, Thomas / Diarra, Salimata / Coulibaly, Dramane / Keita, Mohamed / Guinto, Cheick O / Fischbeck, Kenneth H / Wonkam, Ambroise / Landouré, Guida

    Journal of the peripheral nervous system : JPNS

    2022  Band 27, Heft 2, Seite(n) 113–119

    Abstract: X-linked Charcot-Marie-Tooth type 1 (CMTX1) disease is one of the most common subtypes of inherited neuropathies and is caused by mutations in the GJB1 gene. To date, more than 400 mutations have been reported in GJB1 worldwide but none in sub-Saharan ... ...

    Abstract X-linked Charcot-Marie-Tooth type 1 (CMTX1) disease is one of the most common subtypes of inherited neuropathies and is caused by mutations in the GJB1 gene. To date, more than 400 mutations have been reported in GJB1 worldwide but none in sub-Saharan Africa (SSA). We aimed to clinically characterize patients with CMTX1 and identify the genetic defects. All patients were examined thoroughly, and Nerve Conduction Studies (NCS) were done. EEG and pure tone audiometry (PTA) were also done in select individuals having additional symptoms. DNA was extracted for CMT gene panel testing (50 genes + mtDNA and PMP22 duplication), and putative variants were screened in available relatives. The predominant starting symptom was tingling, and the chief complaint was gait difficulty. Neurological examination found a distal muscle weakness and atrophy, and sensory loss, skeletal deformities, decreased or absent reflexes and steppage gait. The inheritance pattern was consistent with dominant X-linked. NCS showed no response in most of the tested nerves in lower limbs, and normal or reduced amplitudes in upper limbs. A severe sensorineural hearing impairment and a focal epileptic seizure were observed in one patient each. A high intra and inter-familial clinical variability was observed. Genetic testing found three pathogenic missense variants in GJB1, one in each of the families (Val91Met, Arg15Trp, and Phe235Cys). This is the first report of genetically confirmed cases of CMTX1 in SSA, and confirms its clinical and genetic heterogeneity.
    Mesh-Begriff(e) Charcot-Marie-Tooth Disease/pathology ; Connexins/genetics ; Humans ; Mali ; Mutation/genetics ; Mutation, Missense ; Gap Junction beta-1 Protein
    Chemische Substanzen Connexins
    Sprache Englisch
    Erscheinungsdatum 2022-04-05
    Erscheinungsland United States
    Dokumenttyp Case Reports
    ZDB-ID 1364009-4
    ISSN 1529-8027 ; 1085-9489
    ISSN (online) 1529-8027
    ISSN 1085-9489
    DOI 10.1111/jns.12486
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  7. Artikel ; Online: Fahr's syndrome with hyperparathyroidism revealed by seizures and proximal weakness.

    Dembélé, Kékouta / Cissé, Lassana / Djimdé, Samba / Coulibaly, Youlouza / Diarra, Salimata / Yalcouyé, Abdoulaye / Maiga, Boubacar / Guinto, Cheick O / Landouré, Guida

    eNeurologicalSci

    2019  Band 15, Seite(n) 100192

    Sprache Englisch
    Erscheinungsdatum 2019-04-25
    Erscheinungsland Netherlands
    Dokumenttyp Journal Article
    ZDB-ID 2838045-9
    ISSN 2405-6502 ; 2405-6502
    ISSN (online) 2405-6502
    ISSN 2405-6502
    DOI 10.1016/j.ensci.2019.100192
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  8. Artikel ; Online: Hereditary spastic paraplegia in Mali: epidemiological and clinical features.

    Diarra, Salimata / Coulibaly, Thomas / Dembélé, Kékouta / Ngouth, Nyater / Cissé, Lassana / Diallo, Seybou H / Ouologuem, Madani / Diallo, Salimata / Coulibaly, Oumar / Bagayoko, Koumba / Coulibaly, Dramane / Simaga, Assiatou / Sango, Hammadoun A / Traoré, Mahamadou / Jacobson, Steve / Fischbeck, Kenneth H / Landouré, Guida / Guinto, Cheick O

    Acta neurologica Belgica

    2022  Band 123, Heft 6, Seite(n) 2155–2165

    Abstract: Background and purpose: Hereditary spastic paraplegia (HSP) is a group of neurodegenerative diseases divided into pure and complex forms, with spasticity in lower limbs only, or associated with other neurologic and non-neurologic manifestations, ... ...

    Abstract Background and purpose: Hereditary spastic paraplegia (HSP) is a group of neurodegenerative diseases divided into pure and complex forms, with spasticity in lower limbs only, or associated with other neurologic and non-neurologic manifestations, respectively. Although widely reported in other populations, very little data exist in sub-Saharan Africa.
    Methods: Patients with neurodegenerative features were evaluated over a 19-month period at the Department of Neurology, Teaching Hospital of Point "G", Bamako, Mali. The diagnosis of HSP was considered based on family history and the absence of other known non-genetic causes. Genetic analysis including candidate gene and whole exome sequencing was performed and variant pathogenicity was tested using prediction tools and ACMG guidelines.
    Results: Of the 170 families with hereditary neurological disorders enrolled, 16 had features consistent with HSP, a frequency of 9%. The average age of onset was 14.7 years with 46% starting before age 6. The male/female ratio was 2.6:1. Complex forms were seen in 75% of cases, and pure forms in 25%. Pyramidal findings were present in all patients. Associated features included mental retardation, peripheral neuropathy, epilepsy, oculomotor impairment and urinary urgency. Most patients were treated with a muscle relaxant and physical therapy, and restorative surgery was done in one. Genetic testing identified novel variants in three families (19%).
    Conclusion: This study confirms the clinical variability of HSPs and adds African data to the current literature.
    Mesh-Begriff(e) Humans ; Male ; Female ; Adolescent ; Child ; Spastic Paraplegia, Hereditary/diagnosis ; Spastic Paraplegia, Hereditary/epidemiology ; Spastic Paraplegia, Hereditary/genetics ; Mali/epidemiology ; Lower Extremity ; Epilepsy/complications ; Mutation ; Pedigree
    Sprache Englisch
    Erscheinungsdatum 2022-11-17
    Erscheinungsland Italy
    Dokumenttyp Journal Article
    ZDB-ID 127315-2
    ISSN 2240-2993 ; 0300-9009
    ISSN (online) 2240-2993
    ISSN 0300-9009
    DOI 10.1007/s13760-022-02113-w
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  9. Artikel ; Online: Hereditary spastic paraplegia type 35 in a family from Mali.

    Landouré, Guida / Dembélé, Kékouta / Cissé, Lassana / Samassékou, Oumar / Diarra, Salimata / Bocoum, Abdoulaye / Dembélé, Mohamede E / Fischbeck, Kenneth H / Guinto, Cheick O

    American journal of medical genetics. Part A

    2019  Band 179, Heft 7, Seite(n) 1122–1125

    Abstract: Variants in FA2H have been associated with a wide range of phenotypes including hereditary spastic paraplegia type 35 (SPG35); however, genetically confirmed cases have not been reported in Africa. We report here the first African family with a variant ... ...

    Abstract Variants in FA2H have been associated with a wide range of phenotypes including hereditary spastic paraplegia type 35 (SPG35); however, genetically confirmed cases have not been reported in Africa. We report here the first African family with a variant in the FA2H gene causing SPG35. Four affected siblings with consanguineous parents presented with walking difficulty at age 2-3 and progressive limb weakness. They became wheelchair-bound 2 years after disease onset. Neurological examination confirmed lower greater than upper limb weakness and atrophy, brisk reflexes throughout, and spasticity with scissor legs. The patients also had choking, urinary urgency, and mental retardation. A brain MRI showed thin corpus callosum and periventricular leucodystrophy. Testing of 58 SPG genes showed a homozygous variant in FA2H at the exon 5 donor site c.786+1G>A, which has previously been shown to cause skipping of exons 5 and 6 of the gene transcript. This variant segregated with the disease in the family. This variant has been reported previously with a similar phenotype and slow progression in a population with different background. Here, we confirm its pathogenicity and expand its genetic epidemiology. Studying diverse populations may help to increase understanding of the disease mechanism and ultimately lead to therapeutic targets.
    Mesh-Begriff(e) Adolescent ; Adult ; Airway Obstruction/physiopathology ; Child ; Consanguinity ; Corpus Callosum/diagnostic imaging ; Corpus Callosum/metabolism ; Corpus Callosum/pathology ; Exons ; Female ; Homozygote ; Humans ; Intellectual Disability/diagnostic imaging ; Intellectual Disability/genetics ; Intellectual Disability/physiopathology ; Magnetic Resonance Imaging ; Male ; Mali ; Mixed Function Oxygenases/genetics ; Mutation ; Pedigree ; Phenotype ; Siblings ; Spastic Paraplegia, Hereditary/diagnostic imaging ; Spastic Paraplegia, Hereditary/genetics ; Spastic Paraplegia, Hereditary/physiopathology
    Chemische Substanzen Mixed Function Oxygenases (EC 1.-) ; fatty acid alpha-hydroxylase (EC 1.-)
    Sprache Englisch
    Erscheinungsdatum 2019-05-14
    Erscheinungsland United States
    Dokumenttyp Case Reports ; Journal Article ; Research Support, N.I.H., Extramural
    ZDB-ID 2108614-X
    ISSN 1552-4833 ; 0148-7299 ; 1552-4825
    ISSN (online) 1552-4833
    ISSN 0148-7299 ; 1552-4825
    DOI 10.1002/ajmg.a.61179
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  10. Artikel ; Online: Pentanucleotide Repeat Insertions in RAI1 Cause Benign Adult Familial Myoclonic Epilepsy Type 8.

    Yeetong, Patra / Dembélé, Mohamed E / Pongpanich, Monnat / Cissé, Lassana / Srichomthong, Chalurmpon / Maiga, Alassane B / Dembélé, Kékouta / Assawapitaksakul, Adjima / Bamba, Salia / Yalcouyé, Abdoulaye / Diarra, Salimata / Mefoung, Samuel Ephrata / Rakwongkhachon, Supphakorn / Traoré, Oumou / Tongkobpetch, Siraprapa / Fischbeck, Kenneth H / Gahl, William A / Guinto, Cheick O / Shotelersuk, Vorasuk /
    Landouré, Guida

    Movement disorders : official journal of the Movement Disorder Society

    2023  Band 39, Heft 1, Seite(n) 164–172

    Abstract: Background: Benign adult familial myoclonic epilepsy (BAFME) is an autosomal dominant disorder characterized by cortical tremors and seizures. Six types of BAFME, all caused by pentanucleotide repeat expansions in different genes, have been reported. ... ...

    Abstract Background: Benign adult familial myoclonic epilepsy (BAFME) is an autosomal dominant disorder characterized by cortical tremors and seizures. Six types of BAFME, all caused by pentanucleotide repeat expansions in different genes, have been reported. However, several other BAFME cases remain with no molecular diagnosis.
    Objectives: We aim to characterize clinical features and identify the mutation causing BAFME in a large Malian family with 10 affected members.
    Methods: Long-read whole genome sequencing, repeat-primed polymerase chain reaction and RNA studies were performed.
    Results: We identified TTTTA repeat expansions and TTTCA repeat insertions in intron 4 of the RAI1 gene that co-segregated with disease status in this family. TTTCA repeats were absent in 200 Malian controls. In the affected individuals, we found a read with only nine TTTCA repeat units and somatic instability. The RAI1 repeat expansions cause the only BAFME type in which the disease-causing repeats are in a gene associated with a monogenic disorder in the haploinsufficiency state (ie, Smith-Magenis syndrome [SMS]). Nevertheless, none of the Malian patients exhibited symptoms related to SMS. Moreover, leukocyte RNA levels of RAI1 in six Malian BAFME patients were no different from controls.
    Conclusions: These findings establish a new type of BAFME, BAFME8, in an African family and suggest that haploinsufficiency is unlikely to be the main pathomechanism of BAFME. © 2023 International Parkinson and Movement Disorder Society. This article has been contributed to by U.S. Government employees and their work is in the public domain in the USA.
    Mesh-Begriff(e) Adult ; Humans ; Epilepsies, Myoclonic/genetics ; Introns ; Microsatellite Repeats ; RNA ; Seizures/genetics
    Chemische Substanzen RNA (63231-63-0) ; RAI1 protein, human
    Sprache Englisch
    Erscheinungsdatum 2023-11-22
    Erscheinungsland United States
    Dokumenttyp Journal Article
    ZDB-ID 607633-6
    ISSN 1531-8257 ; 0885-3185
    ISSN (online) 1531-8257
    ISSN 0885-3185
    DOI 10.1002/mds.29654
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