DNA from two Syrian families with H syndrome was analyzed through direct sequencing, and the expression of hENT3 in normal human skin was investigated by in situ hybridization and immunostaining. Results: We identified two novel mutations in the SLC29A3 gene: a homozygous splice site mutation IVS1+2T>G predicted to cause a splicing error, and a homozygous missense mutation c.1157G>A (p.R386Q) which substituted highly conserved amino acid residue in a transmembrane domain of hENT3. Furthermore, we demonstrate that hENT3 is expressed in histiocytes as well as in endothelium of blood and lymphatic vessels in normal human skin.
unable to annotate in PDF.
Case: Farooq Family 1 Proband, Syrian, female, 11yo at report, onset at 5yo
CasePresentingHPOs: HP:0004322, HP:0001730, HP:0030044, HP:0000953, HP:0000998, HP:0000969, HP:0100651, HP:0030084, HP:0002240, HP:0001395,
CasePresentingHPOsFreeText: Hyperpigmentation on lower extremities symmetrically and bilaterally, later the genital area as well with edema.
CaseNOTHPOs:
CaseNOTHPOSFreeText:
CasePreviousTesting:
CaseGenotypingMethod: All 6 exons including exon-intron boundaries of the SLC29A3 gene were amplified by PCR from the genomic DNA. Direct sequencing analysis. Restriction enzyme digest.
Variant: c.1+2T>G homozygous
ClinVarID: or CAID: 213676/CA377128556
gnomAD: This splice site variant, c.1+2T>G found in intron 1, is absent from gnomAD v2.1.1. It is present in gnomAD v4.0.0 with a MAF of 0.00001024 (3/292950 alleles) in the European NF population and 0 homozygotes, but there is low coverage so the AF is not reliable.
AddCaseInfo: consanguineous, heterozygous parents
PreviouslyPublished: n/a
VariantEvidence: n/a