Novel insights into PORCN mutations, associated phenotypes and pathophysiological aspects.

ABSTRACT:

Background

Goltz syndrome (GS) is a X-linked disorder defined by defects of mesodermal- and ectodermal-derived structures and caused by PORCN mutations. Features include striated skin-pigmentation, ocular and skeletal malformations and supernumerary or hypoplastic nipples. Generally, GS is associated with in utero lethality in males and most of the reported male patients show mosaicism (only three non-mosaic surviving males have been described so far). Also, precise descriptions of neurological deficits in GS are rare and less severe phenotypes might not only be caused by mosaicism but also by less pathogenic mutations suggesting the need of a molecular genetics and functional work-up of these rare variants.

Results

We report two cases: one girl suffering from typical skin a

SUBMITTER: Arlt A 

PROVIDER: S-EPMC8802438 | biostudies-literature | 2022 Jan

REPOSITORIES: biostudies-literature