Annotation

Position
chr22 : 20780029
Genotype
GCC/GCC
Gene

HGVS DNA code
HGVS protein code
Link
OMIM-ID
MutationTaster

Author:
Text:
Very unlikely to be disease causing, since I am not affected by Van Den Ende-Gupta syndrome. Has not been confirmed by Sanger sequencing! Does anyone have similar cases? Van Den Ende-Gupta syndrome is an extremely rare autosomal-recessive disorder characterized by distinctive craniofacial and skeletal manifestations. To date, only 14 patients from nine families have been described. Inheritance is likely autosomal recessive, which is supported by consanguinity of affected matings, the recurrence of the disorder among the offspring of unaffected couples, and equal sex involvement. It is characterized by craniofacial abnormalities that include blepharophimosis, a flat and wide nasal bridge, malar and/or maxillary hypoplasia, prominent ears, a narrow and beaked nose, an everted lower lip, palatal abnormalities, and down-slanting eyes. Skeletal abnormalities include camptodactyly, arachnodactyly, long thumbs, and hallux valgus. Patients can have flexion contractures and skeletal findings, such as slender ribs, hooked clavicles, and bowed long bones. In four families homozygous mutations in SCARF2 have been described: c.1328_1329delTG (pV443DfsX83) and 773G>A (p.C258Y). Also a compound heterozygous patient was reported.
Created at July 26, 2013 10:17, Last update September 16, 2013 22:19
Voting
Clinical significance
Likely benign
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Comments

Alexej  
August 04, 2013 22:45
I have the very same variant! And as you I do not have the described phenotype, nor the Van Den Ende-Gupta syndrome... Maybe it is a mapping artifact, did you take a look into the raw data?

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