A split hand-split foot (SHFM3) gene is located at 10q24-->25

Fiorella Gurrieri; P Prinos; D Tackels; Mw Kilpatrick; J Allanson; Maurizio Genuardi; A Vuckov; Eugenio Sangiorgi; G Garofalo; Me Nunes; Giovanni Neri; C Schwartz; P. Tsipouras; L Nanni

doi:10.1002/(SICI)1096-8628(19960424)62:4<427::AID-AJMG16>3.0.CO;2-Q

A split hand-split foot (SHFM3) gene is located at 10q24-->25

Fiorella Gurrieri
, P Prinos
, D Tackels
, Mw Kilpatrick
, J Allanson
, Maurizio Genuardi
, A Vuckov
, Eugenio Sangiorgi
, G Garofalo
, Me Nunes
, Giovanni Neri^*
, C Schwartz
, P. Tsipouras
, L Nanni

^*Autore corrispondente per questo lavoro

Risultato della ricerca: Contributo in rivista › Articolo

54 Citazioni (Scopus)

Abstract

The split hand-split foot (SHSF) malformation affects the central rays of the upper and lower limbs. It presents either as an isolated defect or in association with other skeletal or non-skeletal abnormalities. An autosomal SHSF locus (SHFM1) was previously mapped to 7q22.1. We report the mapping of a second autosomal SHSF locus to 10q24-->25. A panel of families was tested with 17 marker loci mapped to the 10q24-->25 region. Maximum lod scores of 3.73, 4.33 and 4.33 at a recombination fraction of zero were obtained for the loci D10S198, PAX2 and D10S1239, respectively. An 19 cM critical region could be defined by haplotype analysis and several genes with a potential role in limb morphogenesis are located in this region. Heterogeneity testing indicates the existence of at least one additional autosomal SHSF locus.

Lingua originale	Inglese
pagine (da-a)	427-436
Numero di pagine	10
Rivista	American Journal of Medical Genetics
Volume	62
Numero di pubblicazione	4
DOI	https://doi.org/10.1002/(SICI)1096-8628(19960424)62:4<427::AID-AJMG16>3.0.CO;2-Q
Stato di pubblicazione	Pubblicato - 1996

All Science Journal Classification (ASJC) codes

Genetica (clinica)

Keywords

Abnormalities
Chromosome Mapping
Chromosomes
Congenital
Female
Foot Deformities
Hand Deformities
Human
Humans
Male
Multiple
Pair 10
Pedigree

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10.1002/(SICI)1096-8628(19960424)62:4<427::AID-AJMG16>3.0.CO;2-Q

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Gurrieri, F., Prinos, P., Tackels, D., Kilpatrick, M., Allanson, J., Genuardi, M., Vuckov, A., Sangiorgi, E., Garofalo, G., Nunes, M., Neri, G., Schwartz, C., Tsipouras, P., & Nanni, L. (1996). A split hand-split foot (SHFM3) gene is located at 10q24-->25. American Journal of Medical Genetics, 62(4), 427-436. https://doi.org/10.1002/(SICI)1096-8628(19960424)62:4<427::AID-AJMG16>3.0.CO;2-Q

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title = "A split hand-split foot (SHFM3) gene is located at 10q24-->25",

abstract = "The split hand-split foot (SHSF) malformation affects the central rays of the upper and lower limbs. It presents either as an isolated defect or in association with other skeletal or non-skeletal abnormalities. An autosomal SHSF locus (SHFM1) was previously mapped to 7q22.1. We report the mapping of a second autosomal SHSF locus to 10q24-->25. A panel of families was tested with 17 marker loci mapped to the 10q24-->25 region. Maximum lod scores of 3.73, 4.33 and 4.33 at a recombination fraction of zero were obtained for the loci D10S198, PAX2 and D10S1239, respectively. An 19 cM critical region could be defined by haplotype analysis and several genes with a potential role in limb morphogenesis are located in this region. Heterogeneity testing indicates the existence of at least one additional autosomal SHSF locus.",

keywords = "Abnormalities, Chromosome Mapping, Chromosomes, Congenital, Female, Foot Deformities, Hand Deformities, Human, Humans, Male, Multiple, Pair 10, Pedigree, Abnormalities, Chromosome Mapping, Chromosomes, Congenital, Female, Foot Deformities, Hand Deformities, Human, Humans, Male, Multiple, Pair 10, Pedigree",

author = "Fiorella Gurrieri and P Prinos and D Tackels and Mw Kilpatrick and J Allanson and Maurizio Genuardi and A Vuckov and Eugenio Sangiorgi and G Garofalo and Me Nunes and Giovanni Neri and C Schwartz and P. Tsipouras and L Nanni",

year = "1996",

doi = "10.1002/(SICI)1096-8628(19960424)62:4<427::AID-AJMG16>3.0.CO;2-Q",

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Gurrieri, F, Prinos, P, Tackels, D, Kilpatrick, M, Allanson, J, Genuardi, M, Vuckov, A, Sangiorgi, E, Garofalo, G, Nunes, M, Neri, G, Schwartz, C, Tsipouras, P & Nanni, L 1996, 'A split hand-split foot (SHFM3) gene is located at 10q24-->25', American Journal of Medical Genetics, vol. 62, n. 4, pagg. 427-436. https://doi.org/10.1002/(SICI)1096-8628(19960424)62:4<427::AID-AJMG16>3.0.CO;2-Q

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T1 - A split hand-split foot (SHFM3) gene is located at 10q24-->25

AU - Gurrieri, Fiorella

AU - Prinos, P

AU - Tackels, D

AU - Kilpatrick, Mw

AU - Allanson, J

AU - Genuardi, Maurizio

AU - Vuckov, A

AU - Sangiorgi, Eugenio

AU - Garofalo, G

AU - Nunes, Me

AU - Neri, Giovanni

AU - Schwartz, C

AU - Tsipouras, P.

AU - Nanni, L

PY - 1996

Y1 - 1996

N2 - The split hand-split foot (SHSF) malformation affects the central rays of the upper and lower limbs. It presents either as an isolated defect or in association with other skeletal or non-skeletal abnormalities. An autosomal SHSF locus (SHFM1) was previously mapped to 7q22.1. We report the mapping of a second autosomal SHSF locus to 10q24-->25. A panel of families was tested with 17 marker loci mapped to the 10q24-->25 region. Maximum lod scores of 3.73, 4.33 and 4.33 at a recombination fraction of zero were obtained for the loci D10S198, PAX2 and D10S1239, respectively. An 19 cM critical region could be defined by haplotype analysis and several genes with a potential role in limb morphogenesis are located in this region. Heterogeneity testing indicates the existence of at least one additional autosomal SHSF locus.

AB - The split hand-split foot (SHSF) malformation affects the central rays of the upper and lower limbs. It presents either as an isolated defect or in association with other skeletal or non-skeletal abnormalities. An autosomal SHSF locus (SHFM1) was previously mapped to 7q22.1. We report the mapping of a second autosomal SHSF locus to 10q24-->25. A panel of families was tested with 17 marker loci mapped to the 10q24-->25 region. Maximum lod scores of 3.73, 4.33 and 4.33 at a recombination fraction of zero were obtained for the loci D10S198, PAX2 and D10S1239, respectively. An 19 cM critical region could be defined by haplotype analysis and several genes with a potential role in limb morphogenesis are located in this region. Heterogeneity testing indicates the existence of at least one additional autosomal SHSF locus.

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KW - Chromosomes

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KW - Foot Deformities

KW - Hand Deformities

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KW - Humans

KW - Male

KW - Multiple

KW - Pair 10

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KW - Abnormalities

KW - Chromosome Mapping

KW - Chromosomes

KW - Congenital

KW - Female

KW - Foot Deformities

KW - Hand Deformities

KW - Human

KW - Humans

KW - Male

KW - Multiple

KW - Pair 10

KW - Pedigree

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DO - 10.1002/(SICI)1096-8628(19960424)62:4<427::AID-AJMG16>3.0.CO;2-Q

M3 - Article

SN - 0148-7299

VL - 62

SP - 427

EP - 436

JO - American Journal of Medical Genetics

JF - American Journal of Medical Genetics

IS - 4

ER -

A split hand-split foot (SHFM3) gene is located at 10q24-->25

Abstract

All Science Journal Classification (ASJC) codes

Keywords

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