Identity-by-descent-guided mutation analysis and exome sequencing in consanguineous families reveals unusual clinical and molecular findings in retinal dystrophy

Genetics in Medicine

Volumn 16, Issue 9, 2014, Pages 671-680

  Coppieters, Frauke ^a   Van Schil, Kristof ^a   Bauwens, Miriam ^a   Verdin, Hannah ^a   De Jaegher, Annelies ^a   Syx, Delfien ^a   Sante, Tom ^a   Lefever, Steve ^a   Abdelmoula, Nouha Bouayed ^b   Depasse, Fanny ^c   Casteels, Ingele ^d   De Ravel, Thomy ^d   Meire, Françoise ^c   Leroy, Bart P ^a,e   De Baere, Elfride ^a  

^a GHENT UNIVERSITY HOSPITAL   (Belgium)

^b UNIVERSITY OF SFAX   (Tunisia)

^c HOP UNIV DES ENFANTS REINE FABIOLA   (Belgium)

^d UNIVERSITY HOSPITALS LEUVEN   (Belgium)

^e CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

Author keywords

copy number variation analysis; identity by descent mapping; retinal dystrophy; variant filtering; whole exome sequencing

Indexed keywords

ABCA4 GENE; ADOLESCENT; ADULT; ARTICLE; AUTOSOMAL RECESSIVE CONE ROD DYSTROPHY; AUTOSOMAL RECESSIVE DISORDER; AUTOSOMAL RECESSIVE RETINITIS PIGMENTOSA; C2ORF71 GENE; CERKL GENE; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; CLN3 GENE; CNNM4 GENE; CONSANGUINEOUS MARRIAGE; COPY NUMBER VARIATION; EARLY ONSET RETINAL DYSTROPHY; EXOME; FEMALE; GENE FREQUENCY; GENE MAPPING; GENETIC SCREENING; GENOME ANALYSIS; GENOTYPE; HETEROZYGOTE; HUMAN; IDENTITY BY DESCENT GUIDED MUTATION ANALYSIS; INDEL MUTATION; IQCB1 GENE; LEBER CONGENITAL AMAUROSIS; LRAT GENE; MALE; MEDICAL HISTORY; MERTK GENE; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NMNAT1 GENE; NONSENSE MUTATION; PCDH15 GENE; PDE6B GENE; PHENOTYPE; PRESCHOOL CHILD; RARE DISEASE; RDH12 GENE; RETINA DYSTROPHY; RETINITIS PIGMENTOSA; RPGRIP1 GENE; SEGREGATION ANALYSIS; SENIOR LOKEN SYNDROME; TOOTH MALFORMATION; USH2A GENE; USHER SYNDROME; YOUNG ADULT; CONSANGUINITY; GENETIC ASSOCIATION; GENETICS; HOMOZYGOTE; MUTATION; NUCLEOTIDE SEQUENCE; OPHTHALMOSCOPE; PATHOLOGY; PEDIGREE; RECESSIVE GENE; RETINAL DYSTROPHIES; SINGLE NUCLEOTIDE POLYMORPHISM; TOOTH;

CADHERIN; PCDH15 PROTEIN, HUMAN;

ADOLESCENT; CADHERINS; CHILD; CHILD, PRESCHOOL; CONSANGUINITY; DNA MUTATIONAL ANALYSIS; EXOME; FEMALE; GENES, RECESSIVE; GENOME-WIDE ASSOCIATION STUDY; HOMOZYGOTE; HUMANS; MALE; MUTATION; MUTATION, MISSENSE; OPHTHALMOSCOPES; PEDIGREE; PHENOTYPE; POLYMORPHISM, SINGLE NUCLEOTIDE; RETINAL DYSTROPHIES; TOOTH;

EID: 84905962072     PISSN: 10983600     EISSN: 15300366     Source Type: Journal    
DOI: 10.1038/gim.2014.24     Document Type: Article

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