Renal dysfunction in sibs with band like calcification with simplified gyration and polymicrogyria: Report of a new mutation and review of literature

European Journal of Medical Genetics

Volumn 59, Issue 1, 2016, Pages 5-10

  Aggarwal, Shagun ^a,b   Bahal, Ashish ^b,c   Dalal, Ashwin ^b  

^a NIZAM'S INSTITUTE OF MEDICAL SCIENCES   (India)

^b CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS   (India)

^c MANIPAL UNIVERSITY   (India)

Author keywords

Band like calcification with simplified gyration and polymicrogyria; Occludin; Pseudo TORCH syndrome; Renal dysfunction

Indexed keywords

CARBAMAZEPINE; CLONAZEPAM; CREATININE; HEMOGLOBIN; IMMUNOGLOBULIN G ANTIBODY; IMMUNOGLOBULIN M; IMMUNOGLOBULIN M ANTIBODY; OCCLUDIN; PHOSPHORUS DERIVATIVE; OCLN PROTEIN, HUMAN;

AGYRIA; ANEMIA; ANENCEPHALUS; ANTHROPOMETRIC PARAMETERS; ANTIBODY TITER; BAND LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA; BASAL GANGLION; BRAIN CALCIFICATION; BRAIN CORTEX; CASE REPORT; CAUSE OF DEATH; CEPHALOMETRY; CHILD; CLINICAL EVALUATION; COMPUTER ASSISTED TOMOGRAPHY; CONSANGUINITY; CYTOMEGALOVIRUS; DEPTH PERCEPTION; DIET SUPPLEMENTATION; ELECTROENCEPHALOGRAM; EPILEPTIC STATE; EXON; FACIAL EXPRESSION; FEMALE; FETUS ECHOGRAPHY; GASTROENTERITIS; GENE MUTATION; GESTATIONAL AGE; HEAD CIRCUMFERENCE; HISTOPATHOLOGY; HOSPITAL ADMISSION; HUMAN; KIDNEY DYSFUNCTION; KIDNEY FAILURE; LANGUAGE DEVELOPMENT; LETTER; LIQUID; MACROGYRIA; MALE; MEDICAL HISTORY; MICROGYRIA; NEUROIMAGING; NEURORADIOLOGY; NEWBORN CARE; NUCLEAR MAGNETIC RESONANCE IMAGING; PARIETAL CORTEX; PATIENT CARE; PATIENT COUNSELING; PHENOTYPIC VARIATION; PREGNANCY; PREGNANCY TERMINATION; PRENATAL DIAGNOSIS; PRESCHOOL CHILD; PROGENY; RESPIRATORY DISTRESS; RUBELLA; RUBELLA VIRUS; SEGREGATION ANALYSIS; SEIZURE; SIBLING; SPASTICITY; TEMPORAL LOBE; TERM BIRTH; THIRD TRIMESTER PREGNANCY; TOXOPLASMA; UREMIA; URINARY TRACT INFECTION; BRAIN; FRAMESHIFT MUTATION; GENE DELETION; GENETICS; KIDNEY; NERVOUS SYSTEM MALFORMATION; NEUROLOGIC DISEASE; PATHOLOGY; PATHOPHYSIOLOGY; POINT MUTATION;

AUTOIMMUNE DISEASES OF THE NERVOUS SYSTEM; BRAIN; CONSANGUINITY; EXONS; FEMALE; FRAMESHIFT MUTATION; GENE DELETION; HUMANS; KIDNEY; MALE; NERVOUS SYSTEM MALFORMATIONS; OCCLUDIN; POINT MUTATION; POLYMICROGYRIA;

EID: 84958787183     PISSN: 17697212     EISSN: 18780849     Source Type: Journal    
DOI: 10.1016/j.ejmg.2015.11.014     Document Type: Letter

References (17)

1. Abdel-Salam G.M.H., Zaki M.S., Saleem S.N., Gaber K.R. Microcephaly, malformation of brain development and intracranial calcification in sibs: pseudo-TORCH or a new syndrome. Am. J. Med. Genet. A 2008, 146A:2929-2936.
2. Abdel-Salam G.M., Zaki M.S. Band-like intracranial calcification (BIC), microcephaly and malformation of brain development: a distinctive form of congenital infection like syndromes. Am. J. Med. Genet. A 2009, 149A:1565-1568.
3. Aicardi J., Goutierés F. A progressive familial encephalopathy in infancy, with calcification of the basal ganglia, and chronic cerebrospinal fluid lymphocytosis. Ann. Neurol. 1984, 15:49-54.
4. Akawi N.A., Canpolat F.E., White S.M., Quilis-Esquerra J., Morales Sanchez M., Gamundi M.J., et al. Delineation of the clinical, molecular and cellular aspects of novel JAM3 mutations underlying the autosomal recessive hemorrhagic destruction of the brain, subependymal calcification, and congenital cataracts. Hum. Mutat. 2013, 34(3):498-505.
5. Baraitser M., Brett E.M., Piesowicz A.T. Microcephaly and intracranial calcification in two brothers. J. Med. Genet. 1983, 20:210-212.
6. Bonnemann C.G., Meinecke P., Reich H. Encephalopathy with intracerebral calcification, white matter lesions, growth hormone deficiency, microcephaly, and retinal degeneration: two sibs confirming a probably distinct entity. J. Med. Genet. 1991, 28:708-711.
7. Briggs T.A., Wolf N.I., D'Arrigo S., Ebinger F., Harting I., Dobyns W.B., et al. Band-like intracranial calcification with simplified gyration and polymicrogyria: a distinct ''pseudo-TORCH'' phenotype. Am. J. Med. Genet. A 2008, 146A:3173-3180.
8. Burn J., Wickramasinghe H.T., Harding B., Baraitser M. A syndrome with intracranial calcification and microcephaly in two sibs, resembling intrauterine infection. Clin. Genet. 1986, 30(2):112-116.
9. Elsaid M.F., Kamel H., Chalhoub N., Aziz N.A., Ibrahim K., Ben-Omran T., et al. Whole genome sequencing identifies a novel occludin mutation in microcephaly with band-like calcification and polymicrogyria that extends the phenotypic spectrum. Am. J. Med. Genet. Part A 2014, 164A:1614-1617.
10. Furuse M., Hirase T., Itoh M., Nagafuchi A., Yonemura S., Tsukita S., Tsukita S. Occludin: a novel integral membrane protein localizing at tight junctions. J. Cell Biol. 1993, 123:1777-1788.
11. Henneke M., Diekmann S., Ohlenbusch A., Kaiser J., Engelbrecht V., Kohlschutter A., et al. RNASET2-deficient cystic leukoencephalopathy resembles congenital cytomegalovirus brain infection. Nat. Genet. 2009, 41:773-775.
12. LeBlanc M.A., Penney L.S., Gaston D., Shi Y., Aberg E., Nightingale M., et al. A novel rearrangement of occludin causes brain calcification and renal dysfunction. Hum. Genet. 2013, 132:1223-1234.
13. Melchior J.C., Benda C.E., Yakovlev P.I. Familial idiopathic cerebral calcifications in childhood. Am. J. Dis. Child. 1960, 99:787-803.
14. Mochida G.H., Ganesh V.S., Felie J.M., Gleason D., Hill R.S., Clapham K.R., et al. A homozygous mutation in the tight-junction protein JAM3 causes hemorrhagic destruction of the brain, subependymal calcification, and congenital cataracts. Am. J. Hum. Genet. 2010, 87:882-889.
15. O'Driscoll M.C., Daly S.B., Urquhart J.E., Black G.C., Pilz D.T., Brockmann K., et al. Recessive mutations in the gene encoding the tight junction protein occludin cause band-like calcification with simplified gyration and polymicrogyria. Am. J. Hum. Genet. 2010, 87(3):354-364.
16. Reardon W., Hockey A., Silberstein P., Kendall B., Farag T.I., Swash M., et al. Autosomal recessive congenital intrauterine infection-like syndrome of microcephaly, intracranial calcification, and CNS disease. Am. J. Med. Genet. 1994, 52:58-65.
17. Saitou M., Furuse M., Sasaki H., Schulzke J.D., Fromm M., Takano H., et al. Complex phenotype of mice lacking occludin, a component of tight junction strands. Mol. Biol. Cell 2000, 11:4131-4142.