Novel FAM126A mutations in hypomyelination and congenital cataract disease

Biochemical and Biophysical Research Communications

Volumn 439, Issue 3, 2013, Pages 369-372

  Traverso, M ^a   Assereto, S ^a   Gazzerro, E ^a   Savasta, S ^b   Abdalla, E M ^c   Rossi, A ^a   Baldassari, S ^a   Fruscione, F ^a   Ruffinazzi, G ^b   Fassad, M R ^c   El Beheiry, A ^d   Minetti, C ^a   Zara, F ^a   Biancheri, R ^a  

^a G GASLINI INSTITUTE   (Italy)

^b FONDAZIONE IRCCS POLICLINICO SAN MATTEO   (Italy)

^c ALEXANDRIA UNIVERSITY   (Egypt)

^d ALEXANDRIA UNIVERSITY   (Egypt)

Author keywords

Cataract; FAM126A gene; Myelination; White matter disorder

Indexed keywords

BRAIN PROTEIN; FAM126A PROTEIN; UNCLASSIFIED DRUG;

ADOLESCENT; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CHILD; CONGENITAL CATARACT; FAMILIAL DISEASE; FEMALE; FIBROBLAST; HUMAN; HUMAN CELL; HYPOMYELINATION AND CONGENITAL CATARACT; MENTAL DEFICIENCY; MISSENSE MUTATION; MUSCLE HYPOTONIA; MUSCLE WEAKNESS; NEUROLOGIC EXAMINATION; NEURORADIOLOGY; NYSTAGMUS; PERIPHERAL NEUROPATHY; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; SCOLIOSIS; SIBLING; STOP CODON; STRABISMUS; WASTING SYNDROME;

CATARACT; FAM126A GENE; MYELINATION; WHITE MATTER DISORDER;

AMINO ACID SEQUENCE; BRAIN; CATARACT; CHARCOT-MARIE-TOOTH DISEASE; CHILD; FEMALE; HUMANS; INFANT; INTRACELLULAR SIGNALING PEPTIDES AND PROTEINS; MEMBRANE PROTEINS; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; SEQUENCE ALIGNMENT;

EID: 84884593171     PISSN: 0006291X     EISSN: 10902104     Source Type: Journal    
DOI: 10.1016/j.bbrc.2013.08.077     Document Type: Article

References (9)

1. Zara F., Biancheri R., Bruno C., Bordo L., Assereto S., Gazzerro E., Sotgia F., Wang X.B., Gianotti S., Stringara S., Pedemonte M., Uziel G., Rossi A., Schenone A., Tortori-Donati P., van der Knaap M.S., Lisanti M.P., Minetti C. Deficiency of hyccin, a newly identified membrane protein causes hypomyelination and congenital cataract. Nat. Genet. 2006, 38:1111-1113.
2. Biancheri R., Zara F., Bruno C., Rossi A., Bordo L., Gazzerro E., Sotgia F., Pedemonte M., Scapolan S., Bado M., Uziel G., Bugiani M., Lamba L.D., Costa V., Schenone A., Rozemuller A.J., Tortori-Donati P., Lisanti M.P., van der Knaap M.S., Minetti C. Phenotypic characterization of hypomyelination and congenital cataract. Ann. Neurol. 2007, 62:121-127.
3. Gazzerro E., Baldassari S., Giacomini C., Musante V., Fruscione F., La Padula V., Biancheri R., Scarfì S., Prada V., Sotgia F., Duncan I.D., Zara F., Werner H.B., Lisanti M.P., Nobbio L., Corradi A., Minetti C. Hyccin, the molecule mutated in the leukodystrophy hypomyelination and congenital cataract (HCC), is a neuronal protein. PLoS One 2012, 7. e32180.
4. Biancheri R., Zara F., Rossi A., Mathot M., Nassogne M.C., Yalcinkaya C., Erturk O., Tuysuz B., Di Rocco M., Gazzerro E., Bugiani M., van Spaendonk R., Sistermans E.A., Minetti C., van der Knaap M.S., Wolf N.I. Hypomyelination and congenital cataract: broadening the clinical phenotype. Arch. Neurol. 2011, 68:1191-1194.
5. Traverso M., Yuregir O.O., Mimouni-Bloch A., Rossi A., Aslan H., Gazzerro E., Baldassari S., Fruscione F., Minetti C., Zara F., Biancheri R. Hypomyelination and congenital cataract: identification of novel mutations in two unrelated families. Eur. J. Paediatr. Neurol. 2013 Jan, 17(1):108-111.
6. Rossi A., Biancheri R., Zara F., Bruno C., Uziel G., van der Knaap M.S., Minetti C., Tortori-Donati P. Hypomyelination and congenital cataract: neuroimaging features of a novel inherited white matter disorder. AJNR Am. J. Neuroradiol. 2008, 29:301-305.
7. Steenweg M.E., Vanderver A., Blaser S., Bizzi A., de Koning T.J., Mancini G.M., van Wieringen W.N., Barkhof F., Wolf N.I., van der Knaap M.S. Magnetic resonance imaging pattern recognition in hypomyelinating disorders. Brain 2010, 133:2971-2982.
8. Assereto S., van Diggelen O.P., Diogo L., Morava E., Cassandrini D., Carreira I., de Boode W.P., Dilling J., Garcia P., Henriques M., Rebelo O., ter Laak H., Minetti C., Bruno C. Null mutations and lethal congenital form of glycogen storage disease type IV. Biochem. Biophys. Res. Commun. 2007 Sep 21, 361(2):445-450.
9. Schiffmann R., van der Knaap M.S. Invited article: an MRI-based approach to the diagnosis of white matter disorders. Neurology 2009, 72:750-759.