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  1. NGS Panel – Genetic Testing for Albinism

Albinism

June 13, 2018

Disease summary

Albinism is an inherited genetic condition which is characterized by reduced or nomelanin pigment in the eyes, skin, and/or hair. The most common form of albinism is oculocutaneous albinism (OCA), caused by a reduction of melanin biosynthesis in the melanocytes resulting in hypopigmentation of the hair, skin, and eyes1.

Autosomal recessive

1 in 17,000 -20,000 1-3

Major clinical symptoms 1, 2:

  • Hypopigmentation of iris and iris translucency
  • Hypopigmentation of skin
  • Hypopigmented hair
  • Vision problems (reduced sharpness, nystagmus and photophobia)
  • Increased risk of melanoma on long-term sun exposure

Presence of the following clinical features 1, 2:

  • Hypopigmentation of the skin and hair
  • Infantile nystagmus
  • Markedly reduced iris pigment with iris transillumination
  • Reduced retinal pigmentation
  • Foveal hypoplasia
  • Reduction in visual acuity
  • Strabismus
  • Reduced stereoscopic vision
  • Altered visually evoked potentials (VEP)

Identification of a heterozygous pathogenic variant in one of the following genes (Table 1) 3, 4:

  • TYR (frequency of pathogenic variants approximately 44%) 5
  • OCA2 (17%) 6
  • TYRP1 (1%) 7
  • SLC45A2 (7%) 7
  • GPR143 (5%) 7
  • SLC24A5 (0,5%) 7

There is no cure for albinism to date, but treatment for albinism can relieve symptoms 3-7.

  • Protective sunglasses and clothing
  • Sunscreen to protect the skin from UV rays
  • Surgery on the muscles of the eyes to correct abnormal eye movements 1,2.
  • Hermansky-Pudlak syndrome
  • Chediak-Higashi syndrome
  • Griscelli syndrome
  • Waardenburg syndrome type II
  • Ichthyosis

To confirm/establish the diagnosis, CENTOGENE offers the following tests:

  • Albinism NGS Panel which includes sequencing of the genes AP3B1, BLOC1S3, BLOC1S6, C10ORF11, DTNBP1, EDN3, EDNRB, GPR143, HPS1, HPS3, HPS4, HPS5, HPS6, KIT, LYST, MC1R, MITF, MLPH, MYO5A, OCA2, PAX3, RAB27A, SLC24A5, SLC45A2, SNAI2, SOX10, TYR, TYRP1
  • Albinism NGS Panel + CNV which includes sequencing and additionally detection of large deletions and duplications from the NGS data
  • Individuals with a positive family history of albinism
  • Individuals with most common symptoms of albinism (regardless of family history)

Confirmation of a clinical diagnosis through genetic testing of albinism can allow for genetic counseling and may direct medical management.