Paula and Bobby
Parents of Lillie
Albinism, Oculocutaneous, Type IV; OCA4
What is Albinism, Oculocutaneous, Type IV; OCA4?
Albinism, Oculocutaneous, Type IV; OCA4 is a rare disease. It is also known as Albinism - brown albinism BOCA OCA4 Oculocutaneous albinism - minimal pigment type Oculocutaneous albinism - type IV Oculocutaneous Albinism, Type Iv.
Brown oculocutaneous albinism result from mutations of the tyrosinase related protein 1 (TRP1). Melanocytes form brown rather than black eumelanin. The phenotype in a black individual is a lighter brown skin and hair colouration than the normal relatives, but they are more darkly pigmented than albinism type II. The skin pigmentation has been called cream coloured, or light tan in colour and the hair might be beige in colour. In addition nystagmus, reduced visual acuity and chiasm misrouting are present as in other forms of albinism. The condition has been found in the same family as OCA2 and the two conditions are probably allelic (Manga et al., 2001).
Boissy et al., (1996) found a mutation in TRP-1, but in Southern African families there were mutations in the P-gene, as found in OCA2 (Manga et al., 2001). According to Manga et al., (2001), the Boissy et al., (1996) family might have rufous (OCA III). A Turkish patient reported by Newton et al., (2001), had a homozygous exon 2 skipping mutation in the human orthologue of the mouse underwhite (uw) gene. This encodes a membrane - associated-transporter protein (MATP). The mutation reduces melanin production in the heterozygous state and all pigentation when homozygous. Rundshagen et al., (2004) screened 176 German patients and found MATP mutations in 5. Four of the patients had white-silvery hair (in 1 it was white-yellowish), severe hypopigmentation of the pigment of the eye, macular dysplasia and dysplastic optic nerves. Twenty four percent of those with albinism in a Japanese population had MATP mutations (Inagaki et al., 2004). The clinical phenotype varied in that some had blond hair and gray-blue irides, whereas others with a different mutation had light yellow hair and blue irides. The phenotype in a Korean patient reported by Suzuki et al., (2005) was relatively severe. The skin was virtually white, the irides blue and the retina showed complete depigmentation. The mutation in MATP was D157N.
* This information is courtesy of the L M D.
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What gene changes cause Albinism, Oculocutaneous, Type IV; OCA4?
The syndrome is inherited in the following inheritance pattern/s:
Autosomal Recessive - Autosomal recessive inheritance means an affected individual receives one copy of a mutated gene from each of their parents, giving them two copies of a mutated gene. Parents, who carry only one copy of the gene mutation will not generally show any symptoms but have a 25% chance of passing the copies of the gene mutations onto each of their children.
In some cases, a genetic syndrome may be the result of a de-novo mutation and the first case in a family. In this case, this is a new gene mutation that occurs during the reproductive process.
OMIM Number - 606574 (please check the OMIM page for updated information)
The syndrome can be caused by mutations in the following gene/s location/s:
SLC45A2 - 5p13.2
What are the main symptoms of Albinism, Oculocutaneous, Type IV; OCA4?
The typical symptoms of the syndrome are:
Neoplasm of the skin, Macular hypoplasia, Nystagmus, Optic atrophy, Ocular albinism, Photophobia, Autosomal recessive inheritance, Strabismus, Abnormality of retinal pigmentation, Blue irides, Albinism, Generalized hypopigmentation, Visual impairment, Hypopigmentation of the fundus, Hypopigmentation of hair
How does someone get tested for Albinism, Oculocutaneous, Type IV; OCA4?
The initial testing for Albinism, Oculocutaneous, Type IV; OCA4 can begin with facial genetic analysis screening, through the FDNA Telehealth telegenetics platform, which can identify the key markers of the syndrome and outline the type of genetic testing needed. A consultation with a genetic counselor and then a geneticist will follow.
Based on this clinical consultation with a geneticist, the different options for genetic testing will be shared and consent will be sought for further testing.
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