眼皮肤白化病(OCA)是一种常染色体隐性遗传综合征和非综合征缺陷,缺乏或完全缺乏黑色素。OCA的特征出现在皮肤上,头发,和不同程度的色素沉着的眼睛。OCA的临床表现包括眼球震颤,畏光,视力下降,低塑性黄斑,和虹膜透射照明。有八种OCA类型(OCA1-8)具有非综合征特征。分子研究确定了与OCA表型相关的七个基因(TYR,近亲和散发性白化病的OCA2,TYRP1,SLC45A2,SLC24A5,C10orf11和DCT)和一个基因座(OCA5)。OCA的并发症会导致皮肤癌和各种综合征,例如Hermansky-Pudlak综合征(HPS)Chediak-Higashi综合征(CHS)。在巴基斯坦人口中,常染色体隐性遗传的非综合征性OCA很常见,并且与大量近亲家庭有关,并报道了非综合征型基因的突变。这篇综述重点介绍了巴基斯坦家庭报道的OCA基因基因突变的最新情况。一些研究报道了巴基斯坦家庭中OCA1,OCA2,OCA3,OCA4和OCA6白化病的基因突变。一个基因座,巴基斯坦人口也报告了OCA5,但该基因尚未鉴定。由于DCT基因突变,鉴定出一种新型的OCA8,这里也有评论。
Oculocutaneous
albinism (OCA) is an autosomal recessive syndromic and non-syndromic defect with deficient or a complete lack of the melanin pigment. The characteristics of OCA appears in skin, hair, and eyes with variable degree of pigmentation. Clinical manifestations of OCA include nystagmus, photophobia, reduced visual acuity, hypo-plastic macula, and iris trans-illumination. There are eight OCA types (OCA1-8) documented with non-syndromic characteristics. Molecular studies identified seven genes linked to the OCA phenotype (TYR, OCA2, TYRP1, SLC45A2, SLC24A5, C10orf11, and DCT) and one locus (OCA5) in consanguineous and sporadic
albinism. The complications of OCA result in skin cancer and variable syndromes such as Hermansky-Pudlak syndrome (HPS) Chediak-Higashi syndrome (CHS). In the Pakistani population, autosomal recessive non-syndromic OCA is common and is associated with a large number of consanguineous families, and mutations in genes of non-syndromic types are reported. This
review highlights the updates on the genetic mutation of OCA genes reported from Pakistani families. Several studies reported the genetic mutations in OCA1, OCA2, OCA3, OCA4, and OCA6
albinism in Pakistani families. A locus, OCA5, was also reported from the Pakistani population, but the gene has not been identified. A new type of OCA8 was identified due to the DCT gene mutation, and it is also reviewed here.