Xq26.3 microdeletion in a male with Wildervanck Syndrome.

[holt-oram syndrome]

Wildervanck Syndrome (WS ; cervico-oculo-acoustic syndrome ) consists of Duane retraction syndrome (DRS ), the Klippel-Feil anomaly , and congenital deafness . It is much more common in females than males and could be due to an X-linked mutation that is lethal to hemizygous males . We present the genetic evaluation of a male with WS and his family .Clinical evaluation and neuroimaging , sequencing of candidate genes , and array comparative genomic hybridization .The patient had bilateral type 1 DRS , fusion of almost the entire cervical spine , and bilateral severe sensorineural hearing loss due to bilateral cochlear dysplasia ; he also had congenital heart disease requiring surgery . His parents were unrelated , and he had eight unaffected siblings . The patient had no mutation found by Sanger sequencing of HOXA 1 , KIF 21 A , SALL 4 , and CHN 1 . He had a 3 kB deletion in the X-chromosome at Xq 26 .3 that was not found in his mother , one unaffected sibling , or 56 healthy controls of matching ethnicity . This deletion encompassed only one gene , Fibroblast Growth Factor Homologous Factor 13 (FGF 13 ), which encodes a 216 -amino acid protein that acts intracellularly in neurons throughout brain development .Analysis of this patient 's phenotype and genotype open the possibility that X-chromosome deletions may be a cause of WS with larger deletions being lethal to males and that FGF 13 mutations may be a cause of WS .

Diseases
Validation

Diseases presenting "brain development" symptom

22q11.2 deletion syndrome

canavan disease

classical phenylketonuria

congenital diaphragmatic hernia

familial hypocalciuric hypercalcemia

hirschsprung disease

holt-oram syndrome

hydrocephalus with stenosis of the aqueduct of sylvius

kallmann syndrome

neonatal adrenoleukodystrophy

pyruvate dehydrogenase deficiency

wiskott-aldrich syndrome

zellweger syndrome

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