A novel KIF7 mutation in two affected siblings with acrocallosal syndrome

Clinical Dysmorphology

Volumn 24, Issue 2, 2015, Pages 61-64

  Karaer, Kadri ^a   Yuksel, Zafer ^b   Ichkou, Amale ^d   Calisir, Cuneyt ^c   Attié Bitach, Tania ^d,e,f  

^a Intergen Genetic Disease Diagnostic Center   (Turkey)

^b Mersin Women's and Children's Hospital   (Turkey)

^c OSMANGAZI UNIVERSITY MEDICAL FACULTY   (Turkey)

^d HÔPITAL NECKER ENFANTS MALADES   (France)

^e Inserm U1163   (France)

^f INSERM   (France)

Author keywords

Acrocallosal syndrome; Genotype phenotype correlation; Novel KIF7 mutation

Indexed keywords

KIF7 PROTEIN; SONIC HEDGEHOG PROTEIN; UNCLASSIFIED DRUG; KIF7 PROTEIN, HUMAN; KINESIN; RNA SPLICING;

ACROCALLOSAL SYNDROME; ALOPECIA AREATA; ARTICLE; CASE REPORT; CHILD; CORPUS CALLOSUM AGENESIS; DEVELOPMENTAL DISORDER; DOWNWARD PALPEBRAL SLANT; EAR; FACE DYSMORPHIA; FEMALE; FRONTAL BOSSING; GENE; GENE MUTATION; GENETIC CORRELATION; GENOTYPE; HOMOZYGOTE; HUMAN; HYPERTELORISM; INFANT; INTELLECTUAL IMPAIRMENT; INTRON; MACROCEPHALY; MALE; MULTIDETECTOR COMPUTED TOMOGRAPHY; MUSCLE HYPOTONIA; NUCLEAR MAGNETIC RESONANCE IMAGING; OLIGODONTIA; PHENOTYPE; PHYSICAL EXAMINATION; PRESCHOOL CHILD; PRIORITY JOURNAL; SEQUENCE ANALYSIS; SIBLING; CRANIOFACIAL MALFORMATION; GENETIC ASSOCIATION; GENETICS; MULTIPLE MALFORMATION SYNDROME; MUTATION; PATHOPHYSIOLOGY; POLYDACTYLY; RNA SPLICING;

ABNORMALITIES, MULTIPLE; ACROCALLOSAL SYNDROME; AGENESIS OF CORPUS CALLOSUM; CHILD, PRESCHOOL; CRANIOFACIAL ABNORMALITIES; DEVELOPMENTAL DISABILITIES; FEMALE; GENETIC ASSOCIATION STUDIES; HUMANS; INFANT; KINESIN; MALE; MUTATION; POLYDACTYLY; RNA SPLICE SITES; SIBLINGS;

EID: 84924870571     PISSN: 09628827     EISSN: 14735717     Source Type: Journal    
DOI: 10.1097/MCD.0000000000000080     Document Type: Article

References (9)

1. Ali BR, Silhavy JL, Akawi NA, Gleeson JG, Al-Gazali L (2012). A mutation in KIF7 is responsible for the autosomal recessive syndrome of macrocephaly, multiple epiphyseal dysplasia and distinctive facial appearance. Orphanet J Rare Dis 7:27.
2. Courtens W, Vamos E, Christophe C, Schinzel A (1997). Acrocallosal syndrome in an Algerian boy born to consanguineous parents: review of the literature and further delineation of the syndrome. Am J Med Genet 69:17-22.
3. Dafinger C, Liebau MC, Elsayed SM, Hellenbroich Y, Boltshauser E, Korenke GC, et al. (2011). Mutations in KIF7 link Joubert syndrome with Sonic Hedgehog signaling and microtubule dynamics. J Clin Invest 121:2662-2667.
4. Elson E, Perveen R, Donnai D, Wall S, Black GC (2002). De novo GLI3 mutation in acrocallosal syndrome: broadening the phenotypic spectrum of GLI3 defects and overlap with murine models. J Med Genet 39:804-806.
5. Putoux A, Thomas S, Coene KL, Davis EE, Alanay Y, Ogur G, et al. (2011). KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes. Nat Genet 43:601-606.
6. Putoux A, Nampoothiri S, Laurent N, Cormier-Daire V, Beales PL, Schinzel A, et al. (2012). Novel KIF7 mutations extend the phenotypic spectrum of acrocallosal syndrome. J Med Genet 49:713-720.
7. Schinzel A (1979). Postaxial polydactyly, hallux duplication, absence of the corpus callosum, macrencephaly and severe mental retardation: a new syndrome? Helv Paediatr Acta 34:141-146.
8. Schwarz JM, Rödelsperger C, Schuelke M, Seelow D (2010). Mutation Taster evaluates disease-causing potential of sequence alterations. Nat Methods 7:575-576.
9. Speksnijder L, Cohen-Overbeek TE, Knapen MF, Lunshof SM, Hoogeboom AJ, van den Ouwenland AM, et al. (2013). A de novo GLI3 mutation in a patient with acrocallosal syndrome. Am J Med Genet A 161A:1394-1400.