Prenatal diagnosis of oculocutaneous albinism type II and novel mutations in two Chinese families

Prenatal Diagnosis

Volumn 27, Issue 6, 2007, Pages 502-506

  Hongyi, Li ^a   Haiyun, Wei ^a   Hui, Zheng ^b   Qing, Wenren ^b   Honglei, Duan ^c   Shu, Meng ^a   Weiying, Jiang ^a  

^a SUN YAT SEN UNIVERSITY   (China)

^b UNIVERSITY OF JINAN   (China)

^c THE AFFILIATED DRUM TOWER HOSPITAL OF NANJING UNIVERSITY MEDICAL SCHOOL   (China)

Author keywords

Albinism; Gene mutation; OCA2; P gene; Prenatal diagnosis

Indexed keywords

ADULT; AMNIOCENTESIS; ARTICLE; CASE REPORT; FEMALE; FETUS; GENE MUTATION; GENETIC ANALYSIS; GENETIC COUNSELING; HETEROZYGOSITY; HUMAN; MALE; NUCLEOTIDE SEQUENCE; PIEBALDISM; POLYMERASE CHAIN REACTION; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; SCHOOL CHILD; SEQUENCE ANALYSIS;

ALBINISM, OCULOCUTANEOUS; AMNIOCENTESIS; ASIAN CONTINENTAL ANCESTRY GROUP; CHILD; CHINA; CHROMOSOMES, HUMAN, PAIR 15; DNA MUTATIONAL ANALYSIS; FEMALE; HUMANS; MEMBRANE TRANSPORT PROTEINS; MUTATION, MISSENSE; PEDIGREE; PREGNANCY; PRENATAL DIAGNOSIS;

EID: 34347262070     PISSN: 01973851     EISSN: 10970223     Source Type: Journal    
DOI: 10.1002/pd.1713     Document Type: Article

References (14)

1. Boissy RE, Richmond B, Huizing M, et al. 2005. Melanocyte-specific proteins are aberrantly trafficked in melanocytes of Hermansky-Pudlak syndrome-type3. Am J Pathol 166(1): 231-240.
2. Gahl WA, Potterf B, Durham-Pierre D, Brilliant MH, Hearing VJ. 1995. Melanosomal tyrosine transport in normal and pinkeyed dilution murine melanocytes. Pigment Cell Res 8: 229-233.
3. Hsieh YY, Wu JY, Chang CC, et al. 2001. Prenatal diagnosis of oculocutaneous albinism in two mutations located at the same allele. Prenat Diagn 21(3): 200-201.
4. Lee S-T, Nicholls RD, Bundey S, Laxova R, Musarella M, Spritz RA. 1994a. Mutations of the P gene in oculocutaneous albinism, ocular albinism, and Prader-Willi Syndrome plus albinism. N Engl J Med 330: 529-534.
5. Lee ST, Nicholls RD, Jong MT, Fukai K, Spritz RA. 1995. Organisation and sequence of the human P gene and identification of a new family of transport proteins. Genomics 26: 354-363.
6. Lin SY, Chien SC, Su YN, Lee CN, Chen CP. 2006. Rapid genetic analysis of oculocutaneous albinism (OCA1) using denaturing high performance liquid chromatography (DHPLC) system. Prenat Diagn 26: 466-470.
7. Newton JM, Cohen-Barak O, Hagiwara N, et al. 2001. Mutations in the human orthologue of the mouse underwhite gene(uw) underlie a new form of oculocutaneous albinism, OCA4. Am J Hum Genet 69(5): 981-988.
8. Oetting WS, King RA. 1999. Molecular basis of albinism: mutations and polymorphisms of pigmentation genes associated with albinism. Hum Mutat 13: 99-115.
9. Oetting WS, Fryer JP, Shriram S, King RA. 2003. Oculocutaneous albinism type 1: the last 100 years. Pigment Cell Res 16(3): 307-311.
10. Oetting WS, Garrett SS, Brott M, King RA. 2005. P gene mutations associated with oculocutaneous albinism type II (OCA2). Hum Mutat 25(3): 323.
11. Rosemblat S, Durham-Pierre D, Gardner JM, Nakatsu Y, Brilliant M, Orlow SJ. 1994. Identification of a melanosomal membrane protein encoded by the pink-eyed dilution (type II oculocutaneous albinism) gene. Proc Natl Acad Sci U S A 91: 12071-12075.
12. Suzuki T, Miyamura Y, Matsunaga J, et al. 2003a. Six novel P gene mutations and oculocutaneous albinism type 2 frequency in Japanese albino patients. J Invest Dermatol 120(5): 781-783.
13. Suzuki T, Miyamura Y, Tomita Y. 2003b. High frequency of the Ala481Thr mutation of the P gene in the Japanese population. Am J Med Genet 118A: 402-403.
14. Suzuki T, Inagaki K, Fukai K, Obana A, Lee ST, Tomita Y. 2005. A Korean case of oculocutaneous albinism type IV caused by a D157N mutation in the MATP gene. Br J Dermatol 152(1): 174-175.