Hearing loss, cleft palate, and congenital hip dysplasia in female carriers of an intragenic deletion of AMMECR1

Previously, mutations in the AMMECR1 gene have been described in six males with developmental delay, sensorineural hearing loss (SNHL) and/or congenital abnormalities, including fetal nuchal edema, fetal pericardial effusion, talipes, congenital hip dysplasia, elliptocytosis and cleft palate. In thi...

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Bibliographic Details
Published in:American journal of medical genetics. Part A 2022-05, Vol.188 (5), p.1578-1582
Main Authors: Koene, Saskia, Knijnenburg, Jeroen, Hoffer, Mariette J. V., Zwanenburg, Fleur, Haak, Monique C., Locher, Heiko, Beelen, Edward S. A., Santen, Gijs W. E., Rotteveel, Liselotte J. C.
Format: Article
Language:English
Subjects:
AMMECR1
Ammecr1 gene
Birth defects
Bone dysplasia
Case Report
Case Reports
Cleft lip/palate
Cleft Palate - diagnosis
Cleft Palate - genetics
Clubfoot
Cochlea
congenital abnormalities
Deafness
Edema
Effusion
Elliptocytosis
Elliptocytosis, Hereditary - genetics
Female
Fetuses
Gene deletion
Hearing loss
Hearing Loss - genetics
Hearing Loss, Sensorineural - diagnosis
Hearing Loss, Sensorineural - genetics
Hearing protection
Hip
Hip dislocation
Hip Dislocation, Congenital
Humans
Inner ear
Male
Mutation
Phenotypes
Point mutation
Proteins - genetics
sensorineural hearing loss
X‐linked inheritance
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Summary:Previously, mutations in the AMMECR1 gene have been described in six males with developmental delay, sensorineural hearing loss (SNHL) and/or congenital abnormalities, including fetal nuchal edema, fetal pericardial effusion, talipes, congenital hip dysplasia, elliptocytosis and cleft palate. In this report, we present three female relatives of a male fetus with an intragenic deletion in this X‐linked gene. All three women reported hearing loss and one was born with a soft cleft palate and hip dysplasia. The audiograms showed mild to moderate SNHL with a variable pattern of the affected frequencies. Immunohistochemical analysis of fetal cochlea was performed confirming the expression of AMMECR1 in the human inner ear. Since hearing loss, cleft palate and congenital hip dysplasia were reported before in male AMMECR1 point mutation carriers and AMMECR1 is expressed in fetal inner ear, we suggest that female carriers may display a partial phenotype in this X‐linked condition.
ISSN:1552-4825
1552-4833
DOI:10.1002/ajmg.a.62669