LOXL3, encoding lysyl oxidase-like 3, is mutated in a family with autosomal recessive Stickler syndrome

Human Genetics

Volumn 134, Issue 4, 2015, Pages 451-453

  Alzahrani, Fatema ^a   Al Hazzaa, Selwa A ^a,b   Tayeb, Hamsa ^a   Alkuraya, Fowzan S ^a,b  

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

^b ALFAISAL UNIVERSITY   (Saudi Arabia)

Author keywords

[No Author keywords available]

Indexed keywords

LYSYL OXIDASE LIKE 3; PROTEIN LYSINE 6 OXIDASE; UNCLASSIFIED DRUG; LOXL3 PROTEIN, HUMAN; OXIDOREDUCTASE;

ADOLESCENT; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; AUTOSOMAL RECESSIVE STICKLER SYNDROME; BOY; CASE REPORT; CHILD; CLEFT PALATE; CLINICAL ASSESSMENT; CONDUCTION DEAFNESS; CONSANGUINITY; EXOME; FACE PROFILE; FACIES; FEMALE; GENE SEQUENCE; HIGH MYOPIA; HUMAN; MALE; MISSENSE MUTATION; PRIORITY JOURNAL; RNA SPLICING; SAUDI; SCHOOL CHILD; STICKLER SYNDROME; AMINO ACID SEQUENCE; COLLAGEN DISEASE; FAMILY; GENETICS; MOLECULAR GENETICS; NUCLEOTIDE SEQUENCE; PEDIGREE; RECESSIVE GENE;

ADOLESCENT; AMINO ACID OXIDOREDUCTASES; AMINO ACID SEQUENCE; BASE SEQUENCE; CHILD; COLLAGEN DISEASES; CONSANGUINITY; FAMILY; FEMALE; GENES, RECESSIVE; HUMANS; MALE; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; PEDIGREE;

EID: 84925486669     PISSN: 03406717     EISSN: 14321203     Source Type: Journal    
DOI: 10.1007/s00439-015-1531-z     Document Type: Article

References (6)

1. Alkuraya FS (2013) The application of next-generation sequencing in the autozygosity mapping of human recessive diseases. Hum Genet 132:1197–1211.
2. Evans AK, Rahbar R, Rogers GF, Mulliken JB, Volk MS (2006) Robin sequence: a retrospective review of 115 patients. Int J Pediatr Otorhinolaryngol 70:973–980.
3. Lee J-E, Kim Y (2006) A tissue-specific variant of the human lysyl oxidase-like protein 3 (LOXL3) functions as an amine oxidase with substrate specificity. J Biol Chem 281:37282–37290.
4. Lucero H, Kagan H (2006) Lysyl oxidase: an oxidative enzyme and effector of cell function. Cell Mol Life Sci CMLS 63:2304–2316.
5. Robin NH, Moran RT, Ala-Kokko L (2014) Stickler Syndrome. In: Pagon RA, Adam MP, Ardinger HH et al (eds) GeneReviews(r) [Internet], 1993–2015. University of Washington, Seattle. http://www.ncbi.nlm.nih.gov/books/NBK1302/.
6. van Boxtel AL, Gansner JM, Hakvoort HW, Snell H, Legler J, Gitlin JD (2011) Lysyl oxidase-like 3b is critical for cartilage maturation during zebrafish craniofacial development. Matrix Biol 30:178–187.