Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Synpolydaktylie Typ 1

Synpolydaktylie vom Typ Vordingborg ist eine autosomal dominante Erkrankung, die auf Mutationen im HOXD13-Gen zurückzuführen ist.

Gliederung

Angeborene Skelettfelbildungen
Al-Gazali-Bakalinova-Syndrom
Brachydaktylie
Branchio-okulo-faziales Syndrom
Ehlers-Danlos-Syndrom bei Tenascin-X-Mangel
Hydrolethalus 2
Kongenitale Kontraktur-Arachnodaktylie
Lakrimo-aurikulo-dento-digitales Syndrom
Lippen-Kiefer-Gaumenspalte 11
Multiple Synostosen
Orofaciodigitales Syndrom
Parodontales Ehlers-Danlos-Syndrom
Proximaler Symphalangismus
Renale tubuläre Azidose mit Arthrogrypose
Simpson-Golabi-Behmel-Syndrom
Stapesankylose mit breiten Daumen und Zehen
Syndaktylie Typ 5
Syndrom der multiplen Synostosen 3
Synpolydaktylie Typ 1
HOXD13
Tarsal-Karpal-Fusions-Syndrom
Tatton-Brown-Rahman-Syndrom
Townes-Brocks-Syndrome
Trigonocephalie 2
Van Maldergem-Syndrom 2

Referenzen:

1.

Sayli BS et. al. (1995) A large Turkish kindred with syndactyly type II (synpolydactyly). 1. Field investigation, clinical and pedigree data.

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2.

Muragaki Y et. al. (1996) Altered growth and branching patterns in synpolydactyly caused by mutations in HOXD13.

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3.

Akarsu AN et. al. (1996) Genomic structure of HOXD13 gene: a nine polyalanine duplication causes synpolydactyly in two unrelated families.

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4.

Goodman F et. al. (1998) Deletions in HOXD13 segregate with an identical, novel foot malformation in two unrelated families.

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5.

Debeer P et. al. (2002) Severe digital abnormalities in a patient heterozygous for both a novel missense mutation in HOXD13 and a polyalanine tract expansion in HOXA13.

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6.

Kan SH et. al. (2003) An acceptor splice site mutation in HOXD13 results in variable hand, but consistent foot malformations.

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7.

Kjaer KW et. al. (2005) A 72-year-old Danish puzzle resolved--comparative analysis of phenotypes in families with different-sized HOXD13 polyalanine expansions.

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8.

Zhao X et. al. (2007) Mutations in HOXD13 underlie syndactyly type V and a novel brachydactyly-syndactyly syndrome.

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9.

Fantini S et. al. (2009) A G220V substitution within the N-terminal transcription regulating domain of HOXD13 causes a variant synpolydactyly phenotype.

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10.

Kurban M et. al. (2011) A nonsense mutation in the HOXD13 gene underlies synpolydactyly with incomplete penetrance.

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11.

Brison N et. al. (2012) An N-terminal G11A mutation in HOXD13 causes synpolydactyly and interferes with Gli3R function during limb pre-patterning.

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12.

Wang B et. al. (2012) A novel non-synonymous mutation in the homeodomain of HOXD13 causes synpolydactyly in a Chinese family.

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13.

Zhou X et. al. (2013) A novel mutation outside homeodomain of HOXD13 causes synpolydactyly in a Chinese family.

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14.

Brison N et. al. (2014) Joining the fingers: a HOXD13 Story.

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15.

Shi X et. al. (2013) A splice donor site mutation in HOXD13 underlies synpolydactyly with cortical bone thinning.

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16.

Dai L et. al. (2014) Mutations in the homeodomain of HOXD13 cause syndactyly type 1-c in two Chinese families.

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17.

Merlob P et. al. (1986) Type II syndactyly or synpolydactyly.

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18.

Cross HE et. al. (1968) Type II syndactyly.

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19.

None (1971) Treatment of central polydactyly.

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20.

Sarfarazi M et. al. (1995) Localization of the syndactyly type II (synpolydactyly) locus to 2q31 region and identification of tight linkage to HOXD8 intragenic marker.

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21.

Akarsu AN et. al. (1995) A large Turkish kindred with syndactyly type II (synpolydactyly). 2. Homozygous phenotype?

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22.

Camera G et. al. (1995) Synpolydactyly (type II syndactyly) with aplasia/hypoplasia of the middle phalanges of the toes: report on a family with eight affected members in four generations.

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23.

Zákány J et. al. (1996) Synpolydactyly in mice with a targeted deficiency in the HoxD complex.

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24.

Goodman FR et. al. (2002) A 117-kb microdeletion removing HOXD9-HOXD13 and EVX2 causes synpolydactyly.

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25.

Kjaer KW et. al. (2002) HOXD13 polyalanine tract expansion in classical synpolydactyly type Vordingborg.

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26.

Malik S et. al. (2008) Synpolydactyly: clinical and molecular advances.

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27.

None (1947) Zygodactyly and associated variations in a Utah family.

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28.

None (2011) Type II familial synpolydactyly: report on two families with an emphasis on variations of expression.

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29.

PIPKIN SB et. al. (1946) Variation of expression of polydactyly.

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30.

None (2012) Syndactyly: phenotypes, genetics and current classification.

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31.

Xin Q et. al. (2012) Eight-alanine duplication in homeobox D13 in a Chinese family with synpolydactyly.

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Update: 26. September 2018

 

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