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 language | English (US) |
|---|---|
| Pages (from-to) | 1170-1174 |
| Number of pages | 5 |
| Journal | American Journal of Medical Genetics, Part A |
| Volume | 164 |
| Issue number | 5 |
| DOIs | |
| State | Published - 2014 |
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Keywords
- SCARF1
- SCARF2
- Sclerocornea
- Van den Ende-Gupta syndrome
ASJC Scopus subject areas
- Genetics(clinical)
- Genetics
Cite this
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 journal › Article
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TY - JOUR
T1 - Sclerocornea in a patient with van den Ende-Gupta syndrome homozygous for a SCARF2 microdeletion
AU - Migliavacca, Michele P.
AU - Sobreira, Nara
AU - Antonialli, Graziela P M
AU - Oliveira, Mariana M.
AU - Melaragno, Maria Isabel S A
AU - Casteels, Ingele
AU - de Ravel, Thomy
AU - Brunoni, Decio
AU - Valle, David
AU - Perez, Ana Beatriz A
PY - 2014
Y1 - 2014
N2 - 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.
AB - 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.
KW - SCARF1
KW - SCARF2
KW - Sclerocornea
KW - Van den Ende-Gupta syndrome
UR - http://www.scopus.com/inward/record.url?scp=84898858254&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=84898858254&partnerID=8YFLogxK
U2 - 10.1002/ajmg.a.36425
DO - 10.1002/ajmg.a.36425
M3 - Article
C2 - 24478002
AN - SCOPUS:84898858254
VL - 164
SP - 1170
EP - 1174
JO - American Journal of Medical Genetics, Part A
JF - American Journal of Medical Genetics, Part A
SN - 1552-4825
IS - 5
ER -