Clinical and genetic features of patients with facial‐sparing facioscapulohumeral muscular dystrophy

He, Junjie; Lin, Xiaodan; Lin, Fei; Xu, Guiyin; Xu, Litao; Hu, Wei; Wang, D.‐N.; Lin, Hui‐Xia; Lin, Min; Wang, N.; Wang, Z.‐Q.

doi:10.1111/ene.13509

Cited by 24 publications

(27 citation statements)

References 22 publications

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“…When we consider that involvement of facial muscles in FSHD may be mild and asymptomatic, the percentage of group 2 patients could be slightly overestimated because of the self‐reported nature of the clinical findings. Nevertheless, results of our investigations in the UK FSHD registry support the notion of a different disease course in these 2 clinical subgroups, as has been recently reported in a Chinese cohort …”

Section: Discussionsupporting

confidence: 90%

“…This phenotype, also defined as facial‐sparing scapular myopathy , is often detected in clinical practice among carriers of D4Z4‐reduced alleles and should be distinguished from other forms of myopathies, including “scapuloperoneal syndromes.” Data from the Italian National Registry for FSHD (G. Ricci, R. Tupler: original data) suggest that the incomplete FSHD phenotype (B1) may be associated with a milder motor disability and slower progression of weakness compared with the classical FSHD phenotype (category A). Similar findings were reported by He and coworkers in a cohort of Chinese patients with FSHD.…”

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confidence: 91%

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Phenotype may predict the clinical course of facioscapolohumeral muscular dystrophy

et al. 2019

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Introduction The correct phenotypic classification of patients with facioscapulohumeral muscular dystrophy (FSHD) is crucial for directing genetic diagnosis and for the definition of outcome measures in clinical trials. Methods Our objective was to ascertain the utility of the Comprehensive Clinical Evaluation Form (CCEF), the clinical classification proposed by the Italian Clinical Network for FSHD, in an independent FSHD patient population from the UK FSHD Patient Registry. We subdivided the patients into group 1, classic FSHD phenotype/category A of CCEF, and group 2, facial sparing phenotypes/category B1 of CCEF. Results Among 642 patients with FSHD1, 68.1% reported facial and shoulder weakness, whereas 24.1% reported shoulder weakness without facial impairment. The phenotype in group 2 was milder, with a higher mean age at onset (P < 0.0001) and less severe motor disability. Discussion Patients with different FSHD phenotypes may have different disease courses. Muscle Nerve 59:711–713, 2019

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Section: Discussionsupporting

confidence: 90%

supporting

confidence: 91%

Phenotype may predict the clinical course of facioscapolohumeral muscular dystrophy

et al. 2019

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“…This observation challenges the concept of facial-sparing FSHD. [23][24][25][26][27] Mild facial muscle weakness is likely to remain unnoticed both by the patient and the physician. 2 Subtle weakness of the orbicularis oculi muscles leads to a "signe de cils"-an inability to bury the eyelashes completely when attempting to close the eyes tightly.…”

Section: Discussionmentioning

confidence: 99%

A family-based study into penetrance in facioscapulohumeral muscular dystrophy type 1

et al. 2018

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“…It was notable that 11 of 35 (31%) mosaic individuals presented a clinical spectrum typical of non-mosaic FSHD (category A based on CCEF), raising the possibility that previously unrecognised mosaicism can perhaps explain previously reported yet genetically indeterminate clinical presentations in patients with FSHD, an idea bolstered by previous suggestions that somatic mosaic FSHD often goes undetected 12. Further, our observation that 5 (14%) mosaic individuals presented non-typical phenotypes without facial weakness suggests a possible genetic explanation—again, underdiagnosed mosaicism—to potentially explain previously reported cases of the facial-sparing scapular myopathy FSHD subtype 26. The non-penetrance frequency of about 50% (18 of 35) in our study was substantially higher than the 17% (12 of 69)27 reported in the latest study of non-mosaic FSHD (χ 2 =11.23, p=0.001), a comparison which supports previous studies indicating that mosaic FSHD has higher clinical tolerance yet slighter disease severity than non-mosaic FSHD.…”

Section: Discussionmentioning

confidence: 55%

Clinical and genetic features of somatic mosaicism in facioscapulohumeral dystrophy

Qiu

Lin

et al. 2020

J Med Genet

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PurposeTo analyse the clinical spectrum, genetic features, specific D4Z4 hypomethylation status and genotype–phenotype correlations for somatic mosaicism in facioscapulohumeral dystrophy (FSHD).MethodsThis was a prospective, hospital-based, case–control, observational study of 35 participants with FSHD with somatic mosaicism recruited over 10 years, with 17 penetrant patients and 18 non-penetrant mutation carriers. This study also included a univariate comparison of 17 paired mosaic and non-mosaic patients with FSHD.ResultsMosaic participants with FSHD varied in age of diagnosis (median 45; range 15–65 years), muscle strength (FSHD clinical score median 0; range 0–10 points), clinical severity (age-corrected clinical severity score (ACSS) median 0; range 0–467 points), D4Z4 repeats (median 3; range 2–5 units), mosaic proportion (median 55%; range 27%–72%) and D4Z4 methylation extent (median 49.82%; range 27.17%–64.51%). The genotypic severity scale and D4Z4 methylation extent were significantly associated with ACSS (p1=0.003; p2=0.002). Among the matched pairs, the 17 mosaic patients had shorter D4Z4 repeats, lower FSHD clinical scores and lower ACSS than non-mosaic patients. Additionally, 34 of 35 (97%) participants carried two mosaic arrays, while a single patient had three mosaic arrays (3%). Two cases also carried four-type non-mosaic arrays on chromosome 10 (translocation configuration).ConclusionsBroadly, this large mosaic FSHD cohort exhibited significant clinical heterogeneity and relatively slight disease severity. Both genotypic severity scale and D4Z4 hypomethylation status served as modifiers of clinical phenotypes. Consistent with previous reports, mitotic interchromosomal/intrachromosomal gene conversion without crossover was here identified as a major genetic mechanism underlying mosaic FSHD.

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Clinical and genetic features of patients with facial‐sparing facioscapulohumeral muscular dystrophy

Cited by 24 publications

References 22 publications

Phenotype may predict the clinical course of facioscapolohumeral muscular dystrophy

Phenotype may predict the clinical course of facioscapolohumeral muscular dystrophy

A family-based study into penetrance in facioscapulohumeral muscular dystrophy type 1

Clinical and genetic features of somatic mosaicism in facioscapulohumeral dystrophy

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