Phenotypic Variability Among Patients With D4Z4 Reduced Allele Facioscapulohumeral Muscular Dystrophy | Zendy

Lucia Ruggiero | Zendy; Fabiano Mele | Zendy; Fiore Manganelli | Zendy; Dario Bruzzese | Zendy; Giulia Ricci | Zendy; Liliana Vercelli | Zendy; Monica Govi | Zendy; Antonio Vallarola | Zendy; Silvia Tripodi | Zendy; Luísa Villa | Zendy; Antonio Di Muzio | Zendy; Marina Scarlato | Zendy; Elisabetta Bucci | Zendy; Giovanni Antonini | Zendy; Lorenzo Maggi | Zendy; Carmelo Rodolico | Zendy; Giuliano Tomelleri | Zendy; Massimiliano Filosto | Zendy; Stefano C. Previtali | Zendy; C. Angelini | Zendy; Angela Berardinelli | Zendy; Elena Pegoraro | Zendy; Maurizio Moggio | Zendy; Tiziana Mongini | Zendy; Gabriele Siciliano | Zendy; Lucio Santoro | Zendy; Rossella Tupler | Zendy

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Phenotypic Variability Among Patients With D4Z4 Reduced Allele Facioscapulohumeral Muscular Dystrophy

Author(s) -

Lucia Ruggiero,

Fabiano Mele,

Fiore Manganelli,

Dario Bruzzese,

Giulia Ricci,

Liliana Vercelli,

Monica Govi,

Antonio Vallarola,

Silvia Tripodi,

Luísa Villa,

Antonio Di Muzio,

Marina Scarlato,

Elisabetta Bucci,

Giovanni Antonini,

Lorenzo Maggi,

Carmelo Rodolico,

Giuliano Tomelleri,

Massimiliano Filosto,

Stefano C. Previtali,

C. Angelini,

Angela Berardinelli,

Elena Pegoraro,

Maurizio Moggio,

Tiziana Mongini,

Gabriele Siciliano,

Lucio Santoro,

Rossella Tupler

Publication year - 2020

Publication title -

jama network open

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 3.278

H-Index - 39

ISSN - 2574-3805

DOI - 10.1001/jamanetworkopen.2020.4040

Subject(s) - facioscapulohumeral muscular dystrophy , proband , medicine , asymptomatic carrier , muscular dystrophy , muscle disorder , genetics , asymptomatic , biology , mutation , gene

Key Points Question What are the phenotypes expressed among patients with facioscapulohumeral muscular dystrophy (FHSD) who are carriers of D4Z4 reduced allele with 7 to 8 repeat units? Findings In this cross-sectional study of 187 probands and 235 relatives who carry a D4Z4 reduced allele with 7 to 8 repeat units, 47.1% of probands did not have the classic FSHD phenotype, and 52.8% of the carrier relatives were nonpenetrant. In 106 families, 18.9% had a member with autosomal dominant FSHD, whereas in 34.9%, the proband was the only participant expressing a myopathic phenotype. Meaning The findings of this study suggest that knowledge of phenotypic variation in the expression of D4Z4 reduced allele with 7 to 8 repeat units in individuals with FSHD could be informative for clinical management and genetic counseling.

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