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Family history of FXTAS is associated with age-related cognitive-linguistic decline among mothers with the FMR1 premutation.
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In: Journal of neurodevelopmental disorders, vol 14, iss 1 (2022)
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| 2 |
Pragmatic Profiles of Adults with Fragile X Syndrome and Williams Syndrome
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In: Brain Sciences; Volume 12; Issue 3; Pages: 385 (2022)
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Behavior Problems and Social Competence in Fragile X Syndrome: A Systematic Review
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In: Genes; Volume 13; Issue 2; Pages: 280 (2022)
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Analysis of a Repetitive Language Coding System: Comparisons between Fragile X Syndrome, Autism, and Down Syndrome
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In: Brain Sciences; Volume 12; Issue 5; Pages: 575 (2022)
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| 5 |
Pragmatic profiles of adults with Fragile X syndrome and Williams syndrome
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| 6 |
An Examination of Family Dynamics, Parental Responsivity, and Child Communication in Fragile X Syndrome
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Concurrent Associations between Expressive Language Ability and Independence in Adolescents and Adults with Fragile X Syndrome.
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In: Brain sciences, vol 11, iss 9 (2021)
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| 8 |
Concurrent Associations between Expressive Language Ability and Independence in Adolescents and Adults with Fragile X Syndrome.
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In: Brain sciences, vol 11, iss 9 (2021)
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Concurrent Associations between Expressive Language Ability and Independence in Adolescents and Adults with Fragile X Syndrome
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In: Brain Sciences ; Volume 11 ; Issue 9 (2021)
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Características de lenguaje oral y escrito en Síndrome de X-Frágil ; Oral and written language characteristics in X-Fragile Syndrome
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| 11 |
Expressive language development in adolescents with Down syndrome and fragile X syndrome: change over time and the role of family-related factors.
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In: Journal of neurodevelopmental disorders, vol 12, iss 1 (2020)
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| 12 |
Expressive language development in adolescents with Down syndrome and fragile X syndrome: change over time and the role of family-related factors.
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In: Journal of neurodevelopmental disorders, vol 12, iss 1 (2020)
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A neurophysiological model of speech production deficits in fragile X syndrome.
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In: Brain communications, vol 2, iss 1 (2020)
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| 14 |
Review of Autism Profiles and Response to Sertraline in Fragile X Syndrome-Associated Autism vs. Non-syndromic Autism; Next Steps for Targeted Treatment.
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The Relationship between Expressive Language Sampling and Clinical Measures in Fragile X Syndrome and Typical Development.
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In: Brain sciences, vol 10, iss 2 (2020)
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The Relationship between Expressive Language Sampling and Clinical Measures in Fragile X Syndrome and Typical Development
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In: Brain Sciences ; Volume 10 ; Issue 2 (2020)
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Language across the Lifespan in Fragile X Syndrome: Characteristics and Considerations for Assessment
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In: Brain Sciences ; Volume 10 ; Issue 4 (2020)
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| 18 |
Repeat-Associated Non-Aug Translation Initiation at Expanded Ggggcc Repeats in c9orf72-Associated Amyotrophic Lateral Sclerosis and Frontotemporal Dementia
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| 19 |
Excitatory-Inhibitory Circuit Dysregulation During The Auditory Cortex Critical Period In The Fragile X Syndrome Mouse Model
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In: Publicly Accessible Penn Dissertations (2020)
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| 20 |
Novel MED12 variant in a multiplex Fragile X syndrome family: dual molecular etiology of two X-linked intellectual disabilities with autism in the same family
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In: ISSN: 0301-4851 ; EISSN: 1573-4978 ; Molecular Biology Reports ; https://hal-riip.archives-ouvertes.fr/pasteur-03565723 ; Molecular Biology Reports, Springer Verlag, 2019, 46 (4), pp.4185 - 4193. ⟨10.1007/s11033-019-04869-6⟩ (2019)
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Abstract:
International audience ; Studies of X-linked pedigrees were the first to identify genes implicated in intellectual disability (ID) and autism spectrum disorder (ASD). However, some pedigrees present a huge clinical variability between the affected members. This intrafamilial heterogeneity may be due to cooccurrence of two disorders. In the present study, we describe a multiplex X-linked pedigree in which three siblings have ID, ASD and dysmorphic features but with variable severity. Through Fragile X syndrome test, we identified the full FMR1 mutation in only two males. Whole exome sequencing allowed us to identify a novel hemizygous variant (p.Gln2080_Gln2083del) in MED12 gene in two males. So, the first patient has FXS, the second has both FMR1 and MED12 mutations while the third has only the MED12 variant. MED12 mutations are implicated in several forms of X-linked ID. Family segregation and genotype-phenotype-correlation were in favor of a cooccurrence of two forms of X-linked ID. Our work provides further evidence of the involvement of MED12 in XLID. Moreover, through these results, it is noteworthy to raise awareness that intrafamilial heterogeneity in FXS multiplex families could result from the cooccurrence of multiple clinical entities involving at least two separate genetic loci. This should be taken into consideration for genetic testing and counselling in patients/families with atypical disease symptoms.
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Keyword:
[SDV]Life Sciences [q-bio]; Autism spectrum disorder; Dual diagnosis; FMR1; Fragile X syndrome; Intellectual disability; MED12; MESH: Adolescent; MESH: Autistic Disorder; MESH: Family; MESH: Fragile X Mental Retardation Protein; MESH: Fragile X Syndrome; MESH: Genes; MESH: Genetic Association Studies; MESH: Genetic Variation; MESH: Humans; MESH: Intellectual Disability; MESH: Male; MESH: Mediator Complex; MESH: Mutation; MESH: Pedigree; MESH: Phenotype; MESH: Siblings; MESH: Whole Exome Sequencing; X-Linked
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URL: https://doi.org/10.1007/s11033-019-04869-6
https://hal-riip.archives-ouvertes.fr/pasteur-03565723
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