GAPO syndrome: a rare genodermatosis presenting with unique features

Troxell, Todd; Piccinin, Meghan A.; Smith, Collin M.; Parsons, Morgan E.; Drew, G. Scott

doi:10.1111/ijd.13928

Cited by 9 publications

(1 citation statement)

References 4 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Unauthorized reproduction of this article is prohibited. The characteristic manifestations of GAPO syndrome is a short stature, typical facial dysmorphism including a coarse facial features (thickened eyelids and lips), frontal bossing, high forehead, rarefaction of eyebrows and eyelashes, depressed nasal bridge, midfacial hypoplasia and wide anterior fontanelle as well as other common symptoms included impaired development of hair, leading to total or partial alopecia and disturbances in teeth eruption (Gagliardi et al, 1984;Tipton and Gorlin, 1984;Wajntal et al, 1990;Bozkurt et al, 2013;Salas-Alanis et al, 2016;Troxell et al, 2018). In some patients visual impairment has been identified with progressive optic atrophy, glaucoma, nystagmus, ptosis and magalocornea; however, these symptoms are not permanent in all patients (Bozkurt et al, 2013).…”

Section: Discussionmentioning

confidence: 99%

Changing facial features in a child with GAPO syndrome caused by novel mutation in the ANTXR1 gene and uniparental disomy of chromosome 2

Śmigiel¹,

Rozensztrauch²,

Walczak³

et al. 2019

Clinical Dysmorphology

View full text Add to dashboard Cite

Section: Discussionmentioning

confidence: 99%

Changing facial features in a child with GAPO syndrome caused by novel mutation in the ANTXR1 gene and uniparental disomy of chromosome 2

Śmigiel¹,

Rozensztrauch²,

Walczak³

et al. 2019

Clinical Dysmorphology

View full text Add to dashboard Cite

GAPO syndrome in seven new patients: Identification of five novel ANTXR1 mutations including the first large intragenic deletion

Abdel‐Hamid

Ismail

Zaki

et al. 2018

American J of Med Genetics Pt A

View full text Add to dashboard Cite

GAPO syndrome is a very rare disorder characterized by growth retardation, alopecia, pseudoanodontia and progressive optic atrophy. It is caused by biallelic mutations in the ANTXR1 gene. Herein, we describe the clinical and molecular findings of seven new patients with GAPO syndrome. Our patients presented with the characteristic clinical features of the syndrome except for one patient who did not display total alopecia till the age of two years. Strikingly, optic atrophy and glaucoma were observed in all patients and one patient showed keratopathy in addition. Moreover, craniosynstosis was an unusual associated finding in one patient. Mutational analysis of ANTXR1 gene identified five novel homozygous mutations including two frameshift, two splice site and a large intragenic deletion of exon 3. Our results reinforce the clinical characteristics of the syndrome, expand the mutational spectrum and provide more insights into the role of the ANTXR1 protein in the regulation of extracellular matrix.

show abstract