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. Author manuscript; available in PMC: 2018 Apr 1.
Published in final edited form as: Mol Genet Metab. 2017 Feb 27;120(4):378–383. doi: 10.1016/j.ymgme.2017.02.007

Table 3.

Genetic Mutations and Clinical Characteristics of 3 Reported Patients with HPS-7

Pt Gene Mutations Gender Age Ethnicity/Nationality Consanguinity Clinical Features Reference
1 DTNBP1 c.307C>T; p.Gln103* homozygous female 48 yrs Portuguese Yes (parents are first cousins) Oculocutaneous albinism, bleeding tendency 10
2 DTNBP1 c.177G>A;p.Trp59* homozygous female 77 yrs Caucasian Yes (parents are first cousins) Oculocutaneous albinism, bleeding tendency, colitis 13
3 DTNBP1 c.307C>T; p.Gln103* homozygous male 6 yrs Paraguayan No Oculocutaneous albinism, easy bruising, mild delay in motor and language development current paper

Mutation nomenclature is based on accession NM_032122.4.