Localization of the Gene for Familial Laryngeal Abductor Paralysis to Chromosome 6q16
Jose M. Manaligod, MD;
Jennifer Skaggs, MS;
Richard J. H. Smith, MD
Arch Otolaryngol Head Neck Surg. 2001;127:913-917.
Background Vocal fold paralysis is a common cause of neonatal stridor. Although
it is usually classified as idiopathic or iatrogenic in origin, a small subset
of patients have a family history of this disorder, indicating a possible
genetic cause.
Objective To identify the genetic locus of the gene that causes familial laryngeal
abductor paralysis.
Design A standard nonorganic protocol was used to extract DNA from whole-blood
samples. The DNA samples were quantified by DNA fluorometry, and the concentration
of all samples was standardized at 40 ng/µL. A pooled DNA strategy was
used to facilitate rapid polymerase chain reaction screening of markers in
the Weber v8.0 genome screening set. Polymerase chain reaction screening of
individual DNA samples was performed using possible linked markers initially
identified as having an allele that appeared with a higher incidence in the
affected DNA pools. Statistical analysis of possible linkage was performed
using the LINKAGE 5.1 set of linkage analysis computer programs.
Subjects A family in which a form of familial laryngeal abductor paralysis segregates
was ascertained. Whole blood samples were drawn from 40 participating individuals
within this family after the subjects' fully informed consent was obtained.
Results Initial screening of the pooled DNA specimens revealed a band pattern
for D6S1021 on chromosome 6q16, indicating an allele with a higher incidence
in the affected vs the nonaffected pool. Two-point analysis of individual
allele patterns confirmed linkage to D6S1021 with an lod score of 3.86 (
= 0.0) at a penetrance value of 0.8. Haplotype analysis with flanking markers
defined a 5-centiray critical region between D6S283 and AFMA047YG1.
Conclusion An autosomal dominant form of familial laryngeal abductor paralysis
is linked to a 5-centiray region on chromosome 6q16 surrounding D6S1021.
From the University of Kentucky Medical Center, Lexington (Dr Manaligod
and Ms Skaggs); and the University of Iowa Hospitals and Clinics, Iowa City
(Dr Smith). Dr Manaligod is now with the Department of Otolaryngology–Head
and Neck Surgery, University of Iowa Hospitals and Clinics.
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