A novel COL4A1 gene mutation results in autosomal dominant non-syndromic congenital cataract in a Chinese familyReportar como inadecuado

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BMC Medical Genetics

, 15:97

Clinical-Molecular Genetics and Cytogenetics


BackgroundAlmost one-third of congenital cataracts are primarily autosomal dominant disorders, which are also called autosomal dominant congenital cataract, resulting in blindness and clouding of the lens. The purpose of this study was to identify the disease-causing mutation in a Chinese family affected by bilateral, autosomal dominant congenital cataract.

MethodsThe detection of candidate gene mutation and the linkage analysis of microsatellite markers were performed for the known candidate genes. Molecular mapping and cloning of candidate genes were used in all affected family members to screen for potential genetic mutations and the mutation was confirmed by single enzyme digestion.

ResultsThe proband was diagnosed with isolated, congenital cataract without the typical clinical manifestations of cataract, which include diabetes, porencephaly, sporadic intracerebral hemorrhage, and glomerulopathy. A novel mutation, c.2345 G > C Gly782Ala, in exon 31 of the collagen type IV αlpha1 COL4A1 gene, which encodes the collagen alpha-1IV chain, was found to be associated with autosomal dominant congenital cataract in a Chinese family. This mutation was not found in unaffected family members or in 200 unrelated controls. Sequence analysis confirmed that the Gly782 amino acid residue is highly conserved.

ConclusionsThe novel mutation c.2345 G > C of the COL4A1 gene is the first report of a non-syndromic, autosomal dominant congenital cataract, thereby highlighting the important role of type IV collagen in the physiological and optical properties of the lens.

KeywordsType IV collagen COL4A1 Non-syndromic congenital cataract AbbreviationsADCCAutosomal dominant congenital cataract

COL4A1Collagen, type IV, αlpha1

CRYAACrystallin, alpha A

CRYABCrystallin, alpha B

CRYBB1Crystallin, beta B1

CRYBB2Crystallin, beta B2

CRYBB3Crystallin, beta B3

CRYBA1Crystallin, beta A1

CRYBA2Crystallin, beta A2

CRYBA3Crystallin, betaA3

CRYBA4Crystallin, beta A4

CRYGACrystallin, gamma A

CRYGBCrystallin, gamma B

CRYGCCrystallin, gamma C

CRYGDCrystallin, gamma D

CRYGSCrystallin, gamma S

GJA3Gap junction protein, alpha 3

GJA8Gap junction protein, alpha 8

MIPMajor intrinsic protein of lens fiber

MAFv-maf avian musculoaponeurotic fibrosarcoma oncogene homolog

PITX3Paired-like homeodomain 3

HSF4Heat shock transcription factor 4

PAX6Paired box 6

PCRPolymerase chain reaction

COL4A1Type IV collagen, αlpha1

COL4A2Type IV collagen, αlpha2

COL4A3Type IV collagen, αlpha3

COL4A4Type IV collagen, αlpha4

COL4A5Type IV collagen, αlpha5

MRIMagnetic resonance imaging

LIG4Ligase IV

ECMExtracellular matrixc


EREndoplasmic reticulum

UPRUnfolded protein response

BMBasement membrane

Electronic supplementary materialThe online version of this article doi:10.1186-s12881-014-0097-2 contains supplementary material, which is available to authorized users.

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Autor: Xin-Yi Xia - Na Li - Xiang Cao - Qiu-Yue Wu - Tian-Fu Li - Cui Zhang - Wei-Wei Li - Ying-Xia Cui - Xiao-Jun Li - Chun-Yan

Fuente: https://link.springer.com/

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