Identification of a novel 14q13.3 deletion involving the SLC25A21 gene associated with familial synpolydactyly

K. Meyertholen; J. B. Ravnan; R. Matalon

doi:10.1159/000339177

Identification of a novel 14q13.3 deletion involving the SLC25A21 gene associated with familial synpolydactyly

K. Meyertholen, J. B. Ravnan, R. Matalon

Research output: Contribution to journal › Article › peer-review

5 Scopus citations

Abstract

Synpolydactyly is a relatively rare malformation. Recently, we came across a male infant with a familial synpolydactyly of the hands and feet. As most familial synpolydactyly syndromes have not been linked to any specific mutations, we felt further investigation was warranted. Using microarray and fluorescent in situ hybridization analysis, we identified a novel mutation of the SLC25A21 gene on chromosome 14.

Original language	English (US)
Pages (from-to)	25-29
Number of pages	5
Journal	Molecular Syndromology
Volume	3
Issue number	1
DOIs	https://doi.org/10.1159/000339177
State	Published - Jun 2012
Externally published	Yes

Keywords

2-Oxoadipate academia
Chromosome 14
MIPOL1
Microarray
PAX9
Polydactyly
SLC25A21
Syndactyly
Synpolydactyly

ASJC Scopus subject areas

Genetics
Genetics(clinical)

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title = "Identification of a novel 14q13.3 deletion involving the SLC25A21 gene associated with familial synpolydactyly",

abstract = "Synpolydactyly is a relatively rare malformation. Recently, we came across a male infant with a familial synpolydactyly of the hands and feet. As most familial synpolydactyly syndromes have not been linked to any specific mutations, we felt further investigation was warranted. Using microarray and fluorescent in situ hybridization analysis, we identified a novel mutation of the SLC25A21 gene on chromosome 14.",

keywords = "2-Oxoadipate academia, Chromosome 14, MIPOL1, Microarray, PAX9, Polydactyly, SLC25A21, Syndactyly, Synpolydactyly",

author = "K. Meyertholen and Ravnan, {J. B.} and R. Matalon",

year = "2012",

month = jun,

doi = "10.1159/000339177",

language = "English (US)",

volume = "3",

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journal = "Molecular Syndromology",

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T1 - Identification of a novel 14q13.3 deletion involving the SLC25A21 gene associated with familial synpolydactyly

AU - Meyertholen, K.

AU - Ravnan, J. B.

AU - Matalon, R.

PY - 2012/6

Y1 - 2012/6

N2 - Synpolydactyly is a relatively rare malformation. Recently, we came across a male infant with a familial synpolydactyly of the hands and feet. As most familial synpolydactyly syndromes have not been linked to any specific mutations, we felt further investigation was warranted. Using microarray and fluorescent in situ hybridization analysis, we identified a novel mutation of the SLC25A21 gene on chromosome 14.

AB - Synpolydactyly is a relatively rare malformation. Recently, we came across a male infant with a familial synpolydactyly of the hands and feet. As most familial synpolydactyly syndromes have not been linked to any specific mutations, we felt further investigation was warranted. Using microarray and fluorescent in situ hybridization analysis, we identified a novel mutation of the SLC25A21 gene on chromosome 14.

KW - 2-Oxoadipate academia

KW - Chromosome 14

KW - MIPOL1

KW - Microarray

KW - PAX9

KW - Polydactyly

KW - SLC25A21

KW - Syndactyly

KW - Synpolydactyly

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DO - 10.1159/000339177

M3 - Article

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SN - 1661-8769

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JO - Molecular Syndromology

JF - Molecular Syndromology

IS - 1

ER -

Identification of a novel 14q13.3 deletion involving the SLC25A21 gene associated with familial synpolydactyly

Abstract

Keywords

ASJC Scopus subject areas

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