Homozygous novel truncating variant of CLPP associated with severe Perrault syndrome

A female proband and her affected niece are homozygous for a novel frameshift variant of CLPP. The proband was diagnosed with severe Perrault syndrome encompassing hearing loss, primary ovarian insufficiency, abnormal brain white matter and developmental delay.

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Bibliographic Details
Published inClinical genetics Vol. 105; no. 5; pp. 584 - 586
Main Authors Faridi, Rabia, Stratton, Pamela, Salmeri, Noemi, Morell, Robert J., Khan, Asma Ali, Usmani, Muhammad A., Newman, William G., Riazuddin, Sheikh, Friedman, Thomas B.
Format Journal Article
LanguageEnglish
Published Denmark Blackwell Publishing Ltd 01.05.2024
Subjects
Female
Gonadal Dysgenesis, 46,XX - complications
Hearing loss
Hearing Loss, Sensorineural - diagnosis
Homozygote
Humans
Pedigree
Substantia alba
developmental delay
deafness
ovarian dysgenesis
CLPP
Perrault syndrome
Online AccessGet full text
ISSN0009-9163
1399-0004
1399-0004
DOI10.1111/cge.14514

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Summary:A female proband and her affected niece are homozygous for a novel frameshift variant of CLPP. The proband was diagnosed with severe Perrault syndrome encompassing hearing loss, primary ovarian insufficiency, abnormal brain white matter and developmental delay.
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AUTHOR CONTRIBUTIONS
RF, RJM, SR, WGN, PS, NS, TBF performed experiments, data analyses and drafted the manuscript; resources and funding, TBF, SR, RJM; subject ascertainment, SR, AAK, MAU.
ISSN:0009-9163
1399-0004
1399-0004
DOI:10.1111/cge.14514