Analysis of genes encoding laminin β2 and related proteins in patients with Galloway - Mowat syndrome

Pediatric Nephrology

Volumn 23, Issue 10, 2008, Pages 1779-1786

  Dietrich, Andreas ^a   Matejas, Verena ^a   Bitzan, Martin ^b   Hashmi, Seema ^c   Kiraly Borri, Cathy ^d   Lin, Shuan Pei ^e   Mildenberger, Eva ^f   Hoppe, Bernd ^g   Palm, Lars ^h   Shiihara, Takashi ⁱ   Steiss, Jens Oliver ^j   Tsai, Jeng Daw ^e,k   Vester, Udo ^l   Weber, Stefanie ^m   Wühl, Elke ^m   Zepf, Kristina ⁿ   Zenker, Martin ^a  

^a UNIVERSITY OF ERLANGEN NUREMBERG   (Germany)

^b MONTREAL CHILDREN S HOSPITAL   (Canada)

^c SINDH INSTITUTE OF UROLOGY AND TRANSPLANTATION   (Pakistan)

^d KING EDWARD MEMORIAL HOSPITAL   (Australia)

^e MACKAY MEMORIAL HOSPITAL   (Taiwan)

^f CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^g UNIVERSITY HOSPITAL OF COLOGNE   (Germany)

^h LUND UNIVERSITY HOSPITAL   (Sweden)

ⁱ Gunma Children's Medical Center   (Japan)

^j JUSTUS LIEBIG UNIVERSITY   (Germany)

^k TAIPEI MEDICAL UNIVERSITY   (Taiwan)

^l UNIVERSITY OF DUISBURG ESSEN   (Germany)

^m UNIVERSITY HOSPITAL HEIDELBERG   (Germany)

ⁿ UNIVERSITY MEDICAL CENTER HAMBURG EPPENDORF   (Germany)

more..

Author keywords

Brain anomalies; Congenital; Mental retardation; Microcephaly; Nephrotic syndrome

Indexed keywords

ALPHA ACTININ; ALPHA3 INTEGRIN; BETA1 INTEGRIN; GLYCOPROTEIN; LAMININ; LAMININ ALPHA5; LAMININ BETA2; UNCLASSIFIED DRUG;

ADOLESCENT; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CHILD; CLINICAL ARTICLE; CLINICAL ASSESSMENT; COHORT ANALYSIS; CONGENITAL NEPHROTIC SYNDROME; FAMILY STUDY; FEMALE; GALLOWAY MOWAT SYNDROME; GENE IDENTIFICATION; GENE MUTATION; GENETIC LINKAGE; HUMAN; HUMAN TISSUE; MALE; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; PATHOGENESIS; PHENOTYPE; PRIORITY JOURNAL; PROTEIN DEFECT; PROTEIN PROTEIN INTERACTION;

ACTININ; ADOLESCENT; CHILD; CHILD, PRESCHOOL; FEMALE; HUMANS; INFANT; LAMININ; MALE; MENTAL RETARDATION; MICROCEPHALY; MUTATION; NEPHROTIC SYNDROME; SYNDROME;

EID: 51549088768     PISSN: 0931041X     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00467-008-0880-4     Document Type: Article

References (35)

1. Cooperstone BG, Friedman A, Kaplan BS (1993) Galloway-Mowat syndrome of abnormal gyral patterns and glomerulopathy. Am J Med Genet 47:250-254
2. Galloway WH, Mowat AP (1968) Congenital microcephaly with hiatus hernia and nephrotic syndrome in two sibs. J Med Genet 5:319-321
3. de Vries BB, van't Hoff WG, Surtees RA, Winter RM (2001) Diagnostic dilemmas in four infants with nephrotic syndrome, microcephaly and severe developmental delay. Clin Dysmorphol 10:115-121
4. Meyers KE, Kaplan P, Kaplan BS (1999) Nephrotic syndrome, microcephaly, and developmental delay: Three separate syndromes. Am J Med Genet 82:257-260
5. Cohen AH, Turner MC (1994) Kidney in Galloway-Mowat syndrome: Clinical spectrum with description of pathology. Kidney Int 45:1407-1415
6. Srivastava T, Whiting JM, Garola RE, Dasouki MJ, Ruotsalainen V, Tryggvason K, Hamed R, Alon US (2001) Podocyte proteins in Galloway-Mowat syndrome. Pediatr Nephrol 16:1022-1029
7. Zenker M, Tralau T, Lennert T, Pitz S, Mark K, Madlon H, Dotsch J, Reis A, Muntefering H, Neumann LM (2004) Congenital nephrosis, mesangial sclerosis, and distinct eye abnormalities with microcoria: An autosomal recessive syndrome. Am J Med Genet 130A:138-145
8. Wuhl E, Kogan J, Zurowska A, Matejas V, Vandevoorde RG, Aigner T, Wendler O, Lesniewska I, Bouvier R, Reis A, Weis J, Cochat P, Zenker M (2007) Neurodevelopmental deficits in Pierson (microcoria-congenital nephrosis) syndrome. Am J Med Genet A 143:311-319
9. Mildenberger E, Lennert T, Kunze J, Jandeck C, Waldherr R, Versmold H (1998) Diffuse mesangial sclerosis: Association with unreported congenital anomalies and placental enlargement. Acta Paediatr 87:1301-1303
10. Shapiro LR, Duncan PA, Farnsworth PB, Lefkowitz M (1976) Congenital microcephaly, hiatus hernia and nephrotic syndrome: An autosomal recessive syndrome. Birth Defects Orig Arctic Ser 12:275-278
11. Zenker M, Aigner T, Wendler O, Tralau T, Muntefering H, Fenski R, Pitz S, Schumacher V, Royer-Pokora B, Wuhl E, Cochat P, Bouvier R, Kraus C, Mark K, Madlon H, Dotsch J, Rascher W, Maruniak-Chudek I, Lennert T, Neumann LM, Reis A (2004) Human laminin {beta}2 deficiency causes congenital nephrosis with mesangial sclerosis and distinct eye abnormalities. Hum Mol Genet 13:2625-2632
12. Miner JH, Yurchenco PD (2004) Laminin functions in tissue morphogenesis. Annu Rev Cell Dev Biol 20:255-284
13. Miner JH, Patton BL (1999) Laminin-11. Int J Biochem Cell Biol 31:811-816
14. Kobayashi N (2002) Mechanism of the process formation; podocytes vs. neurons. Microsc Res Tech 57:217-223
15. Somlo S, Mundel P (2000) Getting a foothold in nephrotic syndrome. Nat Genet 24:333-335
16. Chen CP, Chang TY, Lin SP, Huang JK, Tsai JD, Chiu NC, Wang W (2005) Prenatal magnetic resonance imaging of Galloway-Mowat syndrome. Prenat Diagn 25:525-527
17. Lin CC, Tsai JD, Lin SP, Tzen CY, Shen EY, Shih CS (2001) Galloway-Mowat syndrome: A glomerular basement membrane disorder. Pediatr Nephrol 16:653-657
18. Palm L, Hagerstrand I, Kristoffersson U, Blennow G, Brun A, Jorgensen C (1986) Nephrosis and disturbances of neuronal migration in male siblings - a new hereditary disorder? Arch Dis Child 61:545-548
19. Shiihara T, Kato M, Kimura T, Matsunaga A, Joh K, Hayasaka K (2003) Microcephaly, cerebellar atrophy, and focal segmental glomerulosclerosis in two brothers: A possible mild form of Galloway-Mowat syndrome. J Child Neurol 18:147-149
20. Steiss JO, Gross S, Neubauer BA, Hahn A (2005) Late-onset nephrotic syndrome and severe cerebellar atrophy in Galloway-Mowat syndrome. Neuropediatrics 36:332-335
21. Mitsuhashi Y, Hashimoto I (2003) Genetic abnormalities and clinical classification of epidermolysis bullosa. Arch Dermatol Res 295 [Suppl 1]:S29-S33
22. Miner JH, Cunningham J, Sanes JR (1998) Roles for laminin in embryogenesis: Exencephaly, syndactyly, and placentopathy in mice lacking the laminin alpha5 chain. J Cell Biol 143:1713-1723
23. Kretzler M (2002) Regulation of adhesive interaction between podocytes and glomerular basement membrane. Microsc Res Tech 57:247-253
24. Kreidberg JA, Donovan MJ, Goldstein SL, Rennke H, Shepherd K, Jones RC, Jaenisch R (1996) Alpha 3 beta 1 integrin has a crucial role in kidney and lung organogenesis. Development 122:3537-3547
25. Schmid RS, Shelton S, Stanco A, Yokota Y, Kreidberg JA, Anton ES (2004) Alpha3beta1 integrin modulates neuronal migration and placement during early stages of cerebral cortical development. Development 131:6023-6031
26. Anton ES, Kreidberg JA, Rakic P (1999) Distinct functions of alpha3 and alpha(v) integrin receptors in neuronal migration and laminar organization of the cerebral cortex. Neuron 22:277-289
27. Kaplan JM, Kim SH, North KN, Rennke H, Correia LA, Tong HQ, Mathis BJ, Rodriguez-Perez JC, Allen PG, Beggs AH, Pollak MR (2000) Mutations in ACTN4, encoding alpha-actinin-4, cause familial focal segmental glomerulosclerosis. Nat Genet 24:251-256
28. Kos CH, Le TC, Sinha S, Henderson JM, Kim SH, Sugimoto H, Kalluri R, Gerszten RE, Pollak MR (2003) Mice deficient in alpha-actinin-4 have severe glomerular disease. J Clin Invest 111:1683-1690
29. Smyth N, Vatansever HS, Murray P, Meyer M, Frie C, Paulsson M, Edgar D (1999) Absence of basement membranes after targeting the LAMC1 gene results in embryonic lethality due to failure of endoderm differentiation. J Cell Biol 144:151-160
30. Hasselbacher K, Wiggins RC, Matejas V, Hinkes BG, Mucha B, Hoskins BE, Ozaltin F, Nurnberg G, Becker C, Hangan D, Pohl M, Kuwertz-Broking E, Griebel M, Schumacher V, Royer-Pokora B, Bakkaloglu A, Nurnberg P, Zenker M, Hildebrandt F (2006) Recessive missense mutations in LAMB2 expand the clinical spectrum of LAMB2-associated disorders. Kidney Int 70:1008-1012
31. Kagan M, Cohen AH, Matejas V, Vlangos C, Zenker M (2008) A milder variant of Pierson syndrome. Pediatr Nephrol 23:323-327
32. Matejas V, Al-Gazali L, Amirlak I, Zenker M (2006) A syndrome comprising childhood-onset glomerular kidney disease and ocular abnormalities with progressive loss of vision is caused by mutated LAMB2. Nephrol Dial Transplant 21:3283-3286
33. Shannon MB, Patton BL, Harvey SJ, Miner JH (2006) A hypomorphic mutation in the mouse laminin alpha5 gene causes polycystic kidney disease. J Am Soc Nephrol 17:1913-1922
34. Huber TB, Kwoh C, Wu H, Asanuma K, Godel M, Hartleben B, Blumer KJ, Miner JH, Mundel P, Shaw AS (2006) Bigenic mouse models of focal segmental glomerulosclerosis involving pairwise interaction of CD2AP, Fyn, and synaptopodin. J Clin Invest 116:1337-1345
35. Kobayashi N, Mominoki K, Wakisaka H, Shimazaki Y, Matsuda S (2001) Morphogenetic activity of extracellular matrices on cultured podocytes. Laminin accelerates podocyte process formation in vitro. Ital J Anat Embryol 106:423-430