Two cases of newborns with deletion 13q syndrome were identified and studied using electron microscopy and histologic, immunohistochemical, and special stained sections. We reviewed the published literature on genes that are haploinsufficient in the deletion 13q syndrome. The complexity of the deletion 13q syndrome phenotype is due at least in part to the haploinsufficiency of dosage-sensitive genes. Future studies need to be performed to identify their precise role in the cellular function and the development of the deletion 13q syndrome phenotype.
BrownS, RussoJ, ChitayatD, WarburtonD.The 13q–syndrome: the molecular definition of a critical region in band 13q32. Am J Hum Genet1995;57:857–866.
2.
AllderdicePW, DavisJG, MillerOJ, The 13q-deletion syndrome. Am J Hum Genet1969;21:499–512.
3.
GraceE, DrennanJ, ColverD, GordonRR. The 13q–deletion syndrome. J Med Genet1971;8:351–357.
4.
ChemkeJ, FishelE, ZalishM, SagivM.Multiple skeletal anomalies in the “13q-” syndrome. Eur J Pediatr1978;128:27–31.
5.
CarnevaleA, FriasS, AlcantarR.Interstitial deletion of long arm of chromosome 13. Ann Genet1984;27:49–52.
6.
BrownSA, WarburtonD, BrownLY, Holoprosencephaly due to mutations in ZIC2, a homologue of Drosophila odd-paired. Nat Genet1998;20:180–183.
7.
NagaiT, ArugaJ, TakadaS, The expression of the mouse Zic1, Zic2, and Zic3 gene suggests an essential role for Zic genes in body pattern formation. Dev Biol1997;182:299–313.
8.
BrownLY, OdentS, DavidV, Holoprosencephaly due to mutations in ZIC2: alanine tract expansion mutations may be caused by parental somatic recombination. Hum Mol Genet2001;10:791–796.
9.
DalskiA, AticiJ, KreuzFR, Mutation analysis in the fibroblast growth factor 14 gene: frameshift mutation and polymorphisms in patients with inherited ataxias. Eur J Hum Genet2005;13:118–120.
10.
SmallwoodPM, Munoz-SanjuanI, TongP, Fibroblast growth factor (FGF) homologous factors: new members of the FGF family implicated in nervous system development. Proc Natl Acad Sci1996;93:9850–9857.
11.
WangQ, BardgettME, WongM, Ataxia and paroxysmal dyskinesia in mice lacking axonally transported FGF14. Neuron2002;35:25–38.
12.
van SwietenJC, BrusseE, de GraafBM, A mutation in the fibroblast growth factor 14 gene is associated with autosomal dominant cerebellar ataxia. Am J Hum Genet2003;72:191–199.
13.
MalasS, DuthieS, DeloukasP, EpiskopouV.The isolation and high-resolution chromosomal mapping of human SOX14 and SOX21; two members of the SOX gene family related to SOX1, SOX2, and SOX3. Mamm Genome1999;10:934–937.
14.
BylundM, AnderssonE, NovitchBG, MuhrJ.Vertebrate neurogenesis is counteracted by Sox1-3 activity. Nat Neurosci2003;6:1162–1168.
15.
KennedyJF, FreemanMG, BenirschkeK.Ovarian dysgenesis and chromosomal abnormalities. Obstet Gynecol1977;50:13–20.
16.
CunniffC, JonesKL, BenirschkeK.Ovarian dysgenesis in individuals with chromosomal abnormalities. Hum Genet1991;86:552–556.
17.
BurksDJ, Font de MoraJ, SchubertM, IRS-2 pathways integrate female reproduction and energy homeostasis. Nature2000;407:377–382.
18.
TobeK, SuzukiR, AoyamaM, Increased expression of the sterol regulatory element-binding protein-1 gene in insulin receptor substrate-2 -/- mouse liver. J Biol Chem2001;276:38337–38340.
19.
WithersDJ, GutierrezJS, ToweryH, Disruption of IRS-2 causes type 2 diabetes in mice. Nature1998;391:900–902.
20.
HennigeAM, BurksDJ, OzcanU, Upregulation of insulin receptor substrate-2 in pancreatic beta-cells prevents diabetes. J Clin Invest2003;112:1521–1532.
21.
MammarellaS, RomanoF, Di ValerioA, Interaction between the G1057D variant of IRS-2 and overweight in the pathogenesis of type 2 diabetes. Hum Mol Genet2000; 9:2517–2521.
22.
PoschlE, PollnerR, KuhnK.The genes for the alpha-1(IV) and alpha-2(IV) chains of human basement membrane collagen type IV are arranged head-to-head and separated by a bidirectional promoter of unique structure. EMBO J1988;7:2687–2695.
23.
SoininenR, HuotariM, HostikkaSL, The structural genes for alpha-1 and alpha-2 chains of human type IV collagen are divergently encoded on opposite DNA strands and have an overlapping promoter region. J Biol Chem1988;263:17217–17220.
24.
TanakaN, TajimaS, IshibashiA, Expression of the alpha1-alpha6 collagen IV chains in the dermoepidermal junction during human foetal skin development: temporal and spatial expression of the alpha4 collagen IV chain in an early stage of development. Br J Dermatol1998;139:371–374.
