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A case report of PHF6 mosaicism: Beyond the classic Börjeson‐Forssman‐Lehmann syndrome
Author(s) -
GarciaMelendo Cristina,
Roé Esther,
RodríguezSantiago Benjamín,
AmatSamaranch Victòria,
Cubiró Xavier,
Puig Lluís,
Boronat Susana
Publication year - 2021
Publication title -
pediatric dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.542
H-Index - 73
eISSN - 1525-1470
pISSN - 0736-8046
DOI - 10.1111/pde.14636
Subject(s) - hyperpigmentation , medicine , dermatology , groin , intellectual disability , rna splicing , skin hyperpigmentation , phenotype , genetics , anatomy , gene , biology , psychiatry , rna
We report a 6‐year‐old female with linear skin hyperpigmentation on the axillae and groin, intellectual disability, dysplastic teeth and nails, and facial dysmorphism who was diagnosed with a novel PHF6 pathogenic splicing variant. Males with PHF6 mutations have been associated with the X‐linked recessive disorder Börjeson‐Forssman‐Lehmann, but females have a distinct phenotype which is likely modulated by X‐inactivation.