Females with de novo aberrations in PHF6: Clinical overlap of Borjeson–Forssman–Lehmann with Coffin–Siris syndrome. Issue 3 (5th August 2014)

• Record Type: Journal Article
• Authors: Zweier, Christiane; Rittinger, Olaf; Bader, Ingrid; Berland, Siren; Cole, Trevor; Degenhardt, Franziska; Di Donato, Nataliya; Graul‐Neumann, Luitgard; Hoyer, Juliane; Lynch, Sally Ann; Vlasak, Ingrid; Wieczorek, Dagmar; Kosho, Tomoki; Miyake, Noriko
• Is Part Of: American journal of medical genetics. Volume 166:Issue 3(2014)
• Page Start: 290
• Page End: 301
• Publication Date: 2014-08-05
• Subjects: Medical genetics -- Periodicals; 616.04205
• DOI: 10.1002/ajmg.c.31408
• Languages: English
• ISSNs: 1552-4868

Abstract

<abstract abstract-type="main"> <title> <x xml:space="preserve">Abstract</x> </title> <sec id="ajmgc31408-sec-0001" sec-type="section"> <p>Recently, de novo aberrations in <italic>PHF6</italic> were identified in females with intellectual disability and with a distinct phenotype including a characteristic facial gestalt with bitemporal narrowing, prominent supraorbital ridges, synophrys, a short nose and dental anomalies, tapering fingers with brachytelephalangy, clinodactyly and hypoplastic nails, short toes with hypoplastic nails, and linear skin hyperpigmentation. In adolescent or older patients, this phenotype overlaps but is not identical with Borjeson–Forssman–Lehmann syndrome in males, caused by X‐linked recessive mutations in <italic>PHF6</italic>. In younger girls there seems to be a striking phenotypic overlap with Coffin–Siris syndrome, which is characterized by intellectual disability, sparse hair and hypoplastic nails. This review will summarize and characterize the female phenotype caused by de novo aberrations in <italic>PHF6</italic> and will discuss the overlapping and distinguishing features with Coffin–Siris syndrome. © 2014 Wiley Periodicals, Inc.</p> </sec> </abstract>