Molecular genetic studies and delineation of the oculocutaneous albinism phenotype in the Pakistani population

Thomas J Jaworek; Tasleem Kausar; Shannon M Bell; Nabeela Tariq; Muhammad Imran Maqsood; Asma Sohail; Muhmmmad Ali; Furhan Iqbal; Shafqat Rasool; Saima Riazuddin; Rehan S Shaikh; Zubair M Ahmed

doi:10.1186/1750-1172-7-44

Orphanet Journal of Rare Diseases

Table 2 Clinical assessment of the affected individuals with mutations in TYR and OCA2

From: Molecular genetic studies and delineation of the oculocutaneous albinism phenotype in the Pakistani population

Gene/Family	Mutation (protein)	Sex	Age (yrs)	Hair color	Skin color	Iris color	Visual Acuity Right Left		Type of refraction error	Fundus	Foveal hypoplasia	Photophobia^#	Nystagmus	Con
*TYR*
PKAB074	p.Pro21Leu	M	19	Brown	Pinkish white	Grey/Brown	4/60	4/60	Myopic	Albinotic	Yes	Present	Yes	Yes
PKAB001	p.Cys35Arg	M	40	White	Pinkish white	Grey/Blue	6/38	6/38	Compound myopic hypermetropic astigmatism	Albinotic	Yes	Present	Yes	Yes
PKAB065	p.Cys35Arg	F	28	White	White^a	Grey/Blue	N/A	N/A	N/A	N/A	N/A	Present	Yes	No
PKAB057	p.Arg278*	F	7	White	White^a	Light Brown	N/A	N/A	N/A	N/A	N/A	Present	Yes	Yes
PKAB155	p.Arg278*	M	16	White	White^a,b	Grey/Blue	N/A	N/A	N/A	N/A	N/A	Present	Yes	Yes
PKAB109	p.Arg278*	M	24	N/A	N/A	N/A	N/A	N/A	N/A	N/A	N/A	Present	Yes	Yes
PKAB153	p.Pro406Leu	F	18	Yellow	White^a	Light Grey	N/A	N/A	N/A	N/A	N/A	Present	Yes	Yes
PKAB103	p.Tyr411His	M	30	White	Pinkish White	Grey/Blue	6/60	6/60	Compound hypermetropic	Albinotic	Yes	Present	Yes	No
PKAB073	p.Gly419Arg	M	45	White	White^a	Grey/Blue	N/A	N/A	N/A	N/A	N/A	Present	Yes	No
PKAB078	p.Gly419Arg	F	12	White	White^a,b	Grey/Blue	N/A	N/A	N/A	N/A	N/A	Present	Yes	Yes
*OCA2*
PKAB052	p.Asp486Tyr	F	1.5	White	White	Grey/Blue	N/A	N/A	N/A	N/A	N/A	Present	Present	Yes
PKAB054	p.Asp486Tyr	F	13	Yellowish- White	White^a,b	Blue	6/60	6/60	Compound Myopic	Albinotic	Hypoplasia	Present	Present	Yes
PKAB055	p.Asp486Tyr	F	1.5	White	White	Light Grey	N/A	N/A	N/A	N/A	N/A	Present	Present	Yes
PKAB067	p.Asp486Tyr	M	35	White	White^a	Grey/Blue	N/A	N/A	N/A	N/A	N/A	Present	Present	No
PKAB101	p.Asp486Tyr	M	25	White	White^a	Grey/Blue	6/60	6/60	Mixed Astigmatism	Albinotic	Hyoplasia	Present	Present	Yes
PKAB063	p.Met318Ile p.Leu527Arg	F	5	White	White^a	Grey/Blue	N/A	N/A	N/A	N/A	N/A	Present	Present	Yes
PKAB058	p.Pro743Leu	M	30	White	White^a	Grey/Blue	1/60	4/60	Hypomyopic	Albinotic	N/A	Present	Present	No
PKAB072	p.Pro743Leu	M	6	White	White^a	Grey/Blue	N/A	N/A	N/A	N/A	N/A	Present	Present	Yes
PKAB071	p.Ala787Thr	M	10	Yellowish-White	White^a,b	Blue	Fc3	Fc3	Compound Hypermetropic	Albinotic	Hypoplasia	Present	Present	Yes
PKAB60	c.1045-15 T > G	F	6	White	White^a,b	Grey/Brown	6/36	6/36	Hypermetropic Astigmatism	Albinotic	Hypoplasia	Present	Present	Yes
PKAB068	c.1045-15 T > G	F	7	Yellowish-White	White^a	Blue/Brown	N/A	N/A	N/A	N/A	N/A	Present	Present	Yes
PKAB079	c.1045-15 T > G	M	19	Yellowish-White	Reddish	Grey/Brown	N/A	N/A	N/A	N/A	N/A	Present	Present	Yes
PKAB151	c.1045-15 T > G	F	6	White	White^a	Grey/Blue	N/A	N/A	N/A	N/A	N/A	Present	Present	Yes
PKAB152	c.1045-15 T > G	F	12	N/A	N/A	N/A	N/A	N/A	N/A	N/A	N/A	Present	Present	Yes

^#All individuals show squinting in normal sunlight. ^aReddish spots throughout the skin and lips appeared sun damaged. ^bShow blistering on exposed skin and generalized sunburn redness. N/A not available, Cons consanguineous union.

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