Evidence for an additional locus for split hand/foot malformation in chromosome region 8q21.11-q22.3

Christina A GURNETT; Matthew B DOBBS; Eric J NORDSIECK; Cassie KEPPEL; Charles A GOLDFARB; Jose A MORCUENDE; Anne M BOWCOCK

doi:10.1002/ajmg.a.31375

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Evidence for an additional locus for split hand/foot malformation in chromosome region 8q21.11-q22.3

Journal article

Peer reviewed

Evidence for an additional locus for split hand/foot malformation in chromosome region 8q21.11-q22.3

Christina A GURNETT, Matthew B DOBBS, Eric J NORDSIECK, Cassie KEPPEL, Charles A GOLDFARB, Jose A MORCUENDE and Anne M BOWCOCK

American journal of medical genetics. Part A, Vol.140(16), pp.1744-1748

2006

DOI: 10.1002/ajmg.a.31375

PMID: 16838310

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Abstract

We identified a family where five members had nonsyndromic ectrodactyly. There were three known instances of nonpenetrance. Although four individuals had unilateral cleft hand, one individual had more severe, bilateral and asymmetric absence of the digits. None had foot abnormalities. After exclusion of linkage of SHFM in this family to five known loci, a genome wide scan was performed with DNA from 5 affected and 15 unaffected members of this family. Suggestive evidence for linkage of ectrodactyly to 8q was obtained on the basis of a maximum LOD score of 2.54 at theta (max) = 0 with GAAT1A4. Critical recombinants place the ectrodactyly gene in this family in a 16 cM (21 Mb) interval between D8S1143 and D8S556. Mutational analysis of two candidate genes (FZD6, GDF6) did not identify any mutations in affected members of this family. Our data indicate further genetic heterogeneity for ectrodactyly and suggest the presence of an additional SHFM locus in chromosome region 8q21.11-q22.3.

Fundamental and applied biological sciences. Psychology

Classical genetics, quantitative genetics, hybrids

Human

Biological and medical sciences

Genetics of eukaryotes. Biological and molecular evolution

Details

Title: Subtitle: Evidence for an additional locus for split hand/foot malformation in chromosome region 8q21.11-q22.3
Creators: Christina A GURNETT - Department of Neurology, Washington University School of Medicine, St. Louis, Missouri, United States
Matthew B DOBBS - Department of Orthopedic Surgery, Washington University School of Medicine, One Children's Place, Suite, St. Louis, Missouri, United States
Eric J NORDSIECK - Division of Human Genetics, Departments of Genetics, Pediatrics and Medicine, Washington University School of Medicine, St. Louis, Missouri, United States
Cassie KEPPEL - Department of Neurology, Washington University School of Medicine, St. Louis, Missouri, United States
Charles A GOLDFARB - Department of Orthopedic Surgery, Washington University School of Medicine, One Children's Place, Suite, St. Louis, Missouri, United States
Jose A MORCUENDE - Department of Orthopedic Surgery and Rehabilitation, University of Iowa College of Medicine, Iowa City, Iowa, United States
Anne M BOWCOCK - Division of Human Genetics, Departments of Genetics, Pediatrics and Medicine, Washington University School of Medicine, St. Louis, Missouri, United States
Resource Type: Journal article
Publication Details: American journal of medical genetics. Part A, Vol.140(16), pp.1744-1748
Publisher: Wiley-Liss; Hoboken, NJ
DOI: 10.1002/ajmg.a.31375
PMID: 16838310
ISSN: 1552-4825
eISSN: 1552-4833
Language: English
Date published: 2006
Academic Unit: Stead Family Department of Pediatrics; Orthopedics and Rehabilitation
Record Identifier: 9984040324302771

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