Mutations in ALDH1A3 cause microphthalmia

Clinical Genetics

Volumn 84, Issue 2, 2013, Pages 128-131

  Aldahmesh, M A ^a   Khan, A O ^a,b   Hijazi, H ^a   Alkuraya, F S ^a,c  

^a KING FAISAL SPECIALIST HOSPITAL AND RESEARCH CENTER   (Saudi Arabia)

^b KING KHALED EYE SPECIALIST HOSPITAL   (Saudi Arabia)

^c ALFAISAL UNIVERSITY   (Saudi Arabia)

Author keywords

BMP; Consanguinity; Exome; Locus heterogeneity; Retinoic acid

Indexed keywords

RETINAL DEHYDROGENASE;

ADOLESCENT; ADULT; ALDH1A3 GENE; ANOPHTHALMIA; ARTICLE; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; CONSANGUINEOUS MARRIAGE; EXOME; FEMALE; GENE; GENE IDENTIFICATION; GENE LOCUS; GENE MUTATION; GENETIC HETEROGENEITY; GENETIC SCREENING; GENETIC VARIABILITY; HOMOZYGOSITY; HOMOZYGOTE; HUMAN; INFANT; MALE; MICROPHTHALMIA; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PEDIGREE; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; RARE DISEASE; SCHOOL CHILD; SMOC1 GENE; SMOC2 GENE; SPLICING DEFECT; SYNDACTYLY;

BMP; CONSANGUINITY; EXOME; LOCUS HETEROGENEITY; RETINOIC ACID;

ADOLESCENT; ALDEHYDE OXIDOREDUCTASES; AMINO ACID SEQUENCE; ANOPHTHALMOS; CHILD; CHILD, PRESCHOOL; CONSANGUINITY; FEMALE; HOMOZYGOTE; HUMANS; MALE; MICROPHTHALMOS; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; PHENOTYPE; SEQUENCE ALIGNMENT; YOUNG ADULT;

EID: 84880143156     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/cge.12184     Document Type: Article

References (14)

1. Verma AS, Fitzpatrick DR. Anophthalmia and microphthalmia. Orphanet J Rare Dis 2007: 2: 47.
2. Morrison D, FitzPatrick D, Hanson I et al. National study of microphthalmia, anophthalmia, and coloboma (MAC) in Scotland: investigation of genetic aetiology. J Med Genet 2002: 39: 16-22.
3. Slavotinek AM. Eye development genes and known syndromes. Mol Genet Metab 2011: 104: 448-456.
4. Bardakjian TM, Schneider A. The genetics of anophthalmia and microphthalmia. Curr Opin Ophthalmol 2011: 22: 309-313.
5. Aldahmesh MA, Mohammed JY, Al-Hazzaa S et al. Homozygous null mutation in ODZ3 causes microphthalmia in humans. Genet Med 2012: 14: 900-904.
6. Aldahmesh M, Khan A, Hijazi H et al. Homozygous truncation of SIX6 causes complex microphthalmia in humans. Clin Genet 2012.
7. Zahrani F, Aldahmesh MA, Alshammari MJ, Al-Hazzaa SA, Alkuraya FS. Mutations in c12orf57 cause a syndromic form of colobomatous microphthalmia. Am J Hum Genet 2013: 92: 387-391.
8. Abouzeid H, Boisset G, Favez T et al. Mutations in the SPARC-related modular calcium-binding protein 1 gene, SMOC1, cause Waardenburg anophthalmia syndrome. Am J Hum Genet 2011: 88: 92-98.
9. Rainger J, van Beusekom E, Ramsay JK et al. Loss of the BMP antagonist, SMOC-1, causes Ophthalmo-Acromelic (Waardenburg Anophthalmia) syndrome in humans and mice. PLoS Genet 2011: 7: e1002114.
10. Okada I, Hamanoue H, Terada K et al. SMOC1 is essential for ocular and limb development in humans and mice. Am J Hum Genet 2011: 88: 30-41.
11. Graham CE, Brocklehurst K, Pickersgill RW et al. Characterization of retinaldehyde dehydrogenase 3. Biochem J 2006: 394: 67-75.
12. Duester G. Keeping an eye on retinoic acid signaling during eye development. Chem Biol Interact 2009: 178: 178-181.
13. Fares-Taie L, Gerber S, Chassaing N et al. ALDH1A3 mutations cause recessive anophthalmia and microphthalmia. Am J Hum Genet 2013: 92: 265-270.
14. Dupe V, Matt N, Garnier JM et al. A newborn lethal defect due to inactivation of retinaldehyde dehydrogenase type 3 is prevented by maternal retinoic acid treatment. Proc Natl Acad Sci USA 2003: 100: 14036-14041.