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Split hand/foot malformation associated with 20p12.1 deletion: A case report.

Abstract：

:Split hand/foot malformation (SHFM) or ectrodactyly is a rare congenital disorder affecting limb development characterized by clinical and genetic heterogeneity. SHFM is usually inherited as an autosomal dominant trait with incomplete penetrance. Isolated and syndromic forms are described. The extent of associated malformations is highly variable and multiple syndromes with clinical and genetic overlap have been described. We report here a 28 year-old man presenting with SHFM, sparse hair and widespread freckles. Array-CGH identified a 450 kb de novo 20p12.1 microdeletion encompassing three exons (exon 6 to 8) of MACROD2. Although MACROD2 mutations have not been associated with limb malformation until now, it is located next to KIF16B, which is involved in fibroblast growth factor receptor (FGFR) signaling. Additionally, the deletion encompassed a histone modification H3K27ac mark, known as a provider of quantitative readout of promoter and enhancer activity during human limb development. Altogether, these findings suggest that the 20p12.1 CNV is causative of SHFM in the present case through disturbance of regulatory elements functioning.

journal_name

Eur J Med Genet

journal_title

European journal of medical genetics

authors

Ruaud L,Flöttmann R,Spielmann M,Escande F,Van Maldergem L,Mundlos S,Piard J

doi

10.1016/j.ejmg.2019.103805

subject

Has Abstract

pub_date

2020-04-01 00:00:00

pages

103805

issue

4

eissn

1769-7212

issn

1878-0849

pii

S1769-7212(19)30693-7

journal_volume

63

pub_type

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