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Article: 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
Language	English
Publishing date	2024-03-07
Publishing country	United States
Document type	Preprint
DOI	10.21203/rs.3.rs-4004982/v1
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Article: 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 Volume 12, Issue 2, Page(s) 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
Language	English
Publishing date	2024-02-26
Publishing country	England
Document type	Case Reports
ZDB-ID	2740234-4
ISSN	2050-0904
ISSN	2050-0904
DOI	10.1002/ccr3.8551
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Article ; 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 Volume 5, Issue 5, Page(s) fcad227

Abstract: ... ...

Abstract	CADM3
Language	English
Publishing date	2023-09-05
Publishing country	England
Document type	Journal Article
ISSN	2632-1297
ISSN (online)	2632-1297
DOI	10.1093/braincomms/fcad227
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Article ; 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 Volume 10, Issue 7, Page(s) 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 term(s)	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
Chemical Substances	Intracellular Signaling Peptides and Proteins ; Nuclear Proteins ; EYA1 protein, human (EC 3.1.3.48) ; Protein Tyrosine Phosphatases (EC 3.1.3.48)
Language	English
Publishing date	2022-06-14
Publishing country	United States
Document type	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
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Article ; 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 Volume 27, Issue 2, Page(s) 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 term(s)	Charcot-Marie-Tooth Disease/pathology ; Connexins/genetics ; Humans ; Mali ; Mutation/genetics ; Mutation, Missense ; Gap Junction beta-1 Protein
Chemical Substances	Connexins
Language	English
Publishing date	2022-04-05
Publishing country	United States
Document type	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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Zs.A 5106: Show issues

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Article ; 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 Volume 15, Page(s) 100192

Language	English
Publishing date	2019-04-25
Publishing country	Netherlands
Document type	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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Article ; 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 Volume 123, Issue 6, Page(s) 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 term(s)	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
Language	English
Publishing date	2022-11-17
Publishing country	Italy
Document type	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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Article ; 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 Volume 179, Issue 7, Page(s) 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 term(s)	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
Chemical Substances	Mixed Function Oxygenases (EC 1.-) ; fatty acid alpha-hydroxylase (EC 1.-)
Language	English
Publishing date	2019-05-14
Publishing country	United States
Document type	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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Article ; Online: Pentanucleotide Repeat Insertions in RAI1 Cause Benign Adult Familial Myoclonic Epilepsy Type 8.

Movement disorders : official journal of the Movement Disorder Society

2023 Volume 39, Issue 1, Page(s) 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 term(s)	Adult ; Humans ; Epilepsies, Myoclonic/genetics ; Introns ; Microsatellite Repeats ; RNA ; Seizures/genetics
Chemical Substances	RNA (63231-63-0) ; RAI1 protein, human
Language	English
Publishing date	2023-11-22
Publishing country	United States
Document type	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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Article ; Online: A novel variant in the spatacsin gene causing SPG11 in a Malian family.

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

Journal of the neurological sciences

2020 Volume 411, Page(s) 116675

MeSH term(s)	Humans ; Mutation/genetics ; Proteins/genetics ; Spastic Paraplegia, Hereditary/genetics
Chemical Substances	Proteins ; SPG11 protein, human
Language	English
Publishing date	2020-01-07
Publishing country	Netherlands
Document type	Case Reports ; Letter
ZDB-ID	80160-4
ISSN	1878-5883 ; 0022-510X ; 0374-8642
ISSN (online)	1878-5883
ISSN	0022-510X ; 0374-8642
DOI	10.1016/j.jns.2020.116675
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