Sclerocornea in a patient with van den Ende-Gupta syndrome homozygous for a SCARF2 microdeletion

Michele P. Migliavacca, Nara Sobreira, Graziela P M Antonialli, Mariana M. Oliveira, Maria Isabel S A Melaragno, Ingele Casteels, Thomy de Ravel, Decio Brunoni, David Valle, Ana Beatriz A Perez

Research output: Contribution to journalArticle

Abstract

Van den Ende-Gupta Syndrome (VDEGS) is an autosomal recessive disorder characterized by blepharophimosis, distinctive nose, hypoplastic maxilla, and skeletal abnormalities. Using homozygosity mapping in four VDEGS patients from three consanguineous families, Anastacio et al. [Anastacio et al. (2010); Am J Hum Genet 87:553-559] identified homozygous mutations in SCARF2, located at 22q11.2. Bedeschi et al. [2010] described a VDEGS patient with sclerocornea and cataracts with compound heterozygosity for the common 22q11.2 microdeletion and a hemizygous SCARF2 mutation. Because sclerocornea had been described in DiGeorge-velo-cardio-facial syndrome but not in VDEGS, they suggested that the ocular abnormalities were caused by the 22q11.2 microdeletion. We report on a 23-year-old male who presented with bilateral sclerocornea and the VDGEGS phenotype who was subsequently found to be homozygous for a 17bp deletion in exon 4 of SCARF2. The occurrence of bilateral sclerocornea in our patient together with that of Bedeschi et al., suggests that the full VDEGS phenotype may include sclerocornea resulting from homozygosity or compound heterozygosity for loss of function variants in SCARF2.

Original languageEnglish (US)
Pages (from-to)1170-1174
Number of pages5
JournalAmerican Journal of Medical Genetics, Part A
Volume164
Issue number5
DOIs
StatePublished - 2014

Fingerprint

Blepharophimosis
Eye Abnormalities
DiGeorge Syndrome
Viverridae
Phenotype
Mutation
Loss of Heterozygosity
Maxilla
Nose
Cataract
Exons
Sclerocornea
Marden Walker like syndrome

Keywords

  • SCARF1
  • SCARF2
  • Sclerocornea
  • Van den Ende-Gupta syndrome

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

Cite this

Migliavacca, M. P., Sobreira, N., Antonialli, G. P. M., Oliveira, M. M., Melaragno, M. I. S. A., Casteels, I., ... Perez, A. B. A. (2014). Sclerocornea in a patient with van den Ende-Gupta syndrome homozygous for a SCARF2 microdeletion. American Journal of Medical Genetics, Part A, 164(5), 1170-1174. https://doi.org/10.1002/ajmg.a.36425

Sclerocornea in a patient with van den Ende-Gupta syndrome homozygous for a SCARF2 microdeletion. / Migliavacca, Michele P.; Sobreira, Nara; Antonialli, Graziela P M; Oliveira, Mariana M.; Melaragno, Maria Isabel S A; Casteels, Ingele; de Ravel, Thomy; Brunoni, Decio; Valle, David; Perez, Ana Beatriz A.

In: American Journal of Medical Genetics, Part A, Vol. 164, No. 5, 2014, p. 1170-1174.

Research output: Contribution to journalArticle

Migliavacca, MP, Sobreira, N, Antonialli, GPM, Oliveira, MM, Melaragno, MISA, Casteels, I, de Ravel, T, Brunoni, D, Valle, D & Perez, ABA 2014, 'Sclerocornea in a patient with van den Ende-Gupta syndrome homozygous for a SCARF2 microdeletion', American Journal of Medical Genetics, Part A, vol. 164, no. 5, pp. 1170-1174. https://doi.org/10.1002/ajmg.a.36425
Migliavacca, Michele P. ; Sobreira, Nara ; Antonialli, Graziela P M ; Oliveira, Mariana M. ; Melaragno, Maria Isabel S A ; Casteels, Ingele ; de Ravel, Thomy ; Brunoni, Decio ; Valle, David ; Perez, Ana Beatriz A. / Sclerocornea in a patient with van den Ende-Gupta syndrome homozygous for a SCARF2 microdeletion. In: American Journal of Medical Genetics, Part A. 2014 ; Vol. 164, No. 5. pp. 1170-1174.
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abstract = "Van den Ende-Gupta Syndrome (VDEGS) is an autosomal recessive disorder characterized by blepharophimosis, distinctive nose, hypoplastic maxilla, and skeletal abnormalities. Using homozygosity mapping in four VDEGS patients from three consanguineous families, Anastacio et al. [Anastacio et al. (2010); Am J Hum Genet 87:553-559] identified homozygous mutations in SCARF2, located at 22q11.2. Bedeschi et al. [2010] described a VDEGS patient with sclerocornea and cataracts with compound heterozygosity for the common 22q11.2 microdeletion and a hemizygous SCARF2 mutation. Because sclerocornea had been described in DiGeorge-velo-cardio-facial syndrome but not in VDEGS, they suggested that the ocular abnormalities were caused by the 22q11.2 microdeletion. We report on a 23-year-old male who presented with bilateral sclerocornea and the VDGEGS phenotype who was subsequently found to be homozygous for a 17bp deletion in exon 4 of SCARF2. The occurrence of bilateral sclerocornea in our patient together with that of Bedeschi et al., suggests that the full VDEGS phenotype may include sclerocornea resulting from homozygosity or compound heterozygosity for loss of function variants in SCARF2.",
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