Patient 2 is a 20-year-old male, originating from a consanguineous Arab family ( Fig. 1 D). He presented with hearing loss since age 4 and cutaneous induration and hyperpigmentation of the thighs which first appeared when he was 8-year-old and gradually extended to the genitals, back and lower limbs with overlying hypertrichosis. On physical examination, short stature (128 cm) and dysmorphic facies with downslanting palpebral fissures, short nose, anteverted nares and retrognathism were seen. Additional findings included arcus senilis, scrotal masses, hepatosplenomegaly and fixed flexion contractures of the proximal interphalangeal joints of the right fourth and fifth fingers and the left fifth finger.
Case: Mohlo-Pessach Patient 2, male, 20yo at report, Arab
CasePresentingHPOs: HP:0000365, HP:0000953, HP:0000998, HP:0004322, HP:0001999, HP:0000494, HP:0003196, HP:0000463, HP:0001084, HP:0001433, HP:0100490, HP:0001935, HP:0003565, HP:0011227, HP:0002716, HP:0100727
CasePresentingHPOsFreeText: Cutaneous induration and hyperpigmentation of the thighs appeared at 8yo, spread to genitals, back, and lower limbs. Retrognathism. Scrotal masses. Fixed flexion contractures of the proximal interphalangeal joints of the right fourth and fifth fingers and the left fifth finger. Skin biopsy included dermal infiltrate consisting of lymphocytes, plasma cells and CD68+ histiocytes, and dermal and subcutaneous fibrosis.
CaseNOTHPOs:
CaseNOTHPOSFreeText:
CasePreviousTesting:
CaseGenotypingMethod: SLC29A3 exons and splice junctions were PCR-amplified using intronic primers. PCR products were purified and sequenced on ABI 3700 capillary sequencer.
Variant: c.1088G>A (p.Arg363Gln)
ClinVarID: or CAID: CA129562
gnomAD: This missense variant, Arg363Gln, is present in gnomAD v4.0.0 with a MAF=0.0002666 (16/60010 alleles) in the Admixed American population and 0 homozygotes.
AddCaseInfo: consanguineous parents
PreviouslyPublished: n/a
VariantEvidence: n/a