Split Hand-Foot Malformations-Unveiling Unique Molecular Diagnosis From a Brazilian Cohort.

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Tác giả: Débora Romeo Bertola, Edgard França Bisneto, Eduardo Da Cás, Matheus Augusto Araújo Castro, José Ricardo Magliocco Ceroni, Joao Bosco Oliveira Filho, Alexander Augusto de Lima Jorge, Chong Ae Kim, Ana Cristina Vitorino Krepischi, Guilherme Lopes Yamamoto

Ngôn ngữ: eng

Ký hiệu phân loại:

Thông tin xuất bản: Denmark : Clinical genetics , 2025

Mô tả vật lý:

Bộ sưu tập: NCBI

ID: 736381

Split hand-foot malformation (SHFM) is a congenital limb malformation affecting primarily the central rays of the hands and/or feet, with variable expressivity, incomplete penetrance and syndromic forms. It is genetically heterogeneous, including point mutations and structural variants in different loci. Five individuals with SHFM were clinically evaluated in a Tertiary Center in Brazil: four of them presented additional, nonskeletal findings, including one individual with split foot, hand syndactyly, and ectodermal findings. Structural variants and point mutations in genes associated with SHFM were identified in all individuals. Our results highlight genetic heterogeneity observed in this group of skeletal disorders, alongside incomplete penetrance, a challenging task imposed on genetic counseling. Of note, an individual harboring a recurrent heterozygous variant in MAP3K20 presented a phenotype reminiscent of TP63-related disorders, contrary to the one recently reported in the literature with prominent facial dysmorphisms, expanding the phenotypic spectrum of this newly recognized syndromic form of SHFM.
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