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 2 Proband, Syrian, female, 16yo at report, onset at 1wk old
CasePresentingHPOs: HP:0030148, HP:0001629, HP:0033190, HP:0004322, HP:0012785, HP:0001730, HP:0002240, HP:0001395
CasePresentingHPOsFreeText: Hyperpigmentation on thighs and later genital area. Hearing started deteriorating progressively after an ear infection. Fasting blood glucose was elevated (350 mg/dl).
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: p.R386Q homozygous
ClinVarID: or CAID: 39870/CA130660
gnomAD: The missense variant p.Arg386Gln is present in gnomAD v4.0.0 with a MAF=0.00003999 (3/75018 alleles) in the African/African American population and 0 homozygotes.
AddCaseInfo: Consanguineous, heterozygous parents. Proband's younger sister was also reported by the parents to be affected, but was not examined by the authors or genotyped.
PreviouslyPublished: n/a
VariantEvidence: n/a