Pigmentation abnormalities in <scp>Coffin‐Siris</scp> syndrome

Zapata‐Aldana, Eugenio; Ceballos‐Sáenz, Delia; Vásquez‐Ríos, Jorge Rodrigo; Vera‐Alvarez, Lilian; Carrillo‐Soler, Jorge

doi:10.1111/cge.14356

Cited by 1 publication

(1 citation statement)

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“…All these aspects point out the common embryonic origin of the brain, tooth enamel, and epidermis, as already postulated (Mollinedo et al, 2019). Thus, Helsmoortel-van der Aa syndrome with ADNP linked to SWI/SNF or BAF chromatin remodeling complex ) manifests a skin involvement, like other chromatin disorders, including Koolen-de Vries (KDVS, MIM#610443) and BAF complex-related syndromes (Khazanchi et al, 2019;Koolen et al, 2016;Zapata-Aldana et al, 2023;Zollino et al, 2015).…”

Section: Discussionmentioning

confidence: 61%

Extended phenotypic characterization of a novel Helsmoortel‐van der Aa syndrome case series

Pascolini,

Di Zenzo,

Panebianco

et al. 2024

American J of Med Genetics Pt A

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The neurodevelopmental disorder known as Helsmoortel‐van der Aa syndrome (HVDAS, MIM#616580) or ADNP syndrome (Orphanet, ORPHA:404448) is a multiple congenital anomaly (MCA) condition, reported as a syndrome in 2014, associated with deleterious variants in the ADNP gene (activity‐dependent neuroprotective protein; MIM*611386) in several children. First reported in the turn of the century, ADNP is a protein with crucial functions for the normal development of the central nervous system and with pleiotropic effects, explaining the multisystemic character of the syndrome. Affected individuals present with striking facial dysmorphic features and variable congenital defects. Herein, we describe a novel case series of HVDAS Italian patients, illustrating their clinical findings and the related genotype–phenotype correlations. Interestingly, the cutaneous manifestations are also extensively expanded, giving an important contribution to the clinical characterization of the condition, and highlighting the relation between skin abnormalities and ADNP defects.

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