H syndrome: novel and recurrent mutations in SLC29A3.
The H syndrome (OMIM 612391) is a recently described autosomal recessive disorder characterized by cutaneous hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, short stature (low height), hyperglycaemia/diabetes mellitus, hallux valgus, and fixed flexion contractures of the toe and finger joints.(1,2) Histologically, there is an inflammatory infiltrate consisting mainly of histiocytes, later replaced by fibrosis of the deep dermis and subcutis.(3) In total, 31 patients have been reported in the literature with the clinical phenotype characteristic of this syndrome.(1-7)
Priya
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Diagnostics Division, Centre for DNA Fingerprinting and Diagnostics, Nampally, Hyderabad, Andhra Pradesh 500001, India.
Philip
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Molho-Pessach
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V
Busa
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T
Dalal
A
A
Zlotogorski
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A
D000293:Adolescent; D000595:Amino Acid Sequence; D000818:Animals; D001483:Base Sequence; D004252:DNA Mutational Analysis / Q000379:methods; D006801:Humans; D017495:Hyperpigmentation / Q000235:genetics*; D006983:Hypertrichosis / Q000235:genetics*; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D033703:Nucleoside Transport Proteins / Q000235:genetics*; D010375:Pedigree; D016415:Sequence Alignment; D012873:Skin Diseases, Genetic / Q000235:genetics*; D013577:Syndrome; D055815:Young Adult
D033703:Nucleoside Transport Proteins; C501424:SLC29A3 protein, human