Homozygous novel truncating variant of CLPP associated with severe Perrault syndrome.

Faridi, Rabia; Stratton, Pamela; Salmeri, Noemi; Morell, Robert J; Khan, Asma Ali; Usmani, Muhammad A; Newman, William G; Riazuddin, Sheikh; Friedman, Thomas B

Faridi, Rabia; Stratton, Pamela; Salmeri, Noemi; Morell, Robert J; Khan, Asma Ali; Usmani, Muhammad A; Newman, William G; Riazuddin, Sheikh; Friedman, Thomas B.

Afiliación

Faridi R; Laboratory of Molecular Genetics, NIDCD, NIH, Bethesda, Maryland, USA.
Stratton P; Office of the Clinical Director, Intramural Research Program, NINDS, NIH, Bethesda, Maryland, USA.
Salmeri N; Rehabilitation Medicine Department, Clinical Center, NIH, Bethesda, Maryland, USA.
Morell RJ; Genomics and Computational Biology Core, NIDCD, NIH, Bethesda, Maryland, USA.
Khan AA; National Centre of Excellence in Molecular Biology, University of the Punjab, Lahore, Pakistan.
Usmani MA; Allama Iqbal Medical Research Center, Jinnah Burn and Reconstructive Surgery Center, University of Health Sciences, Lahore, Pakistan.
Newman WG; Evolution, Infection and Genomics, University of Manchester, Manchester, UK.
Riazuddin S; Allama Iqbal Medical Research Center, Jinnah Burn and Reconstructive Surgery Center, University of Health Sciences, Lahore, Pakistan.
Friedman TB; Laboratory of Molecular Genetics, NIDCD, NIH, Bethesda, Maryland, USA.

Clin Genet ; 105(5): 584-586, 2024 05.

Article en En | MEDLINE | ID: mdl-38454547

ABSTRACT

ABSTRACT

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.

Asunto(s)

Disgenesia Gonadal 46 XX; Pérdida Auditiva Sensorineural; Femenino; Humanos; Disgenesia Gonadal 46 XX/complicaciones; Pérdida Auditiva Sensorineural/diagnóstico; Homocigoto; Linaje

Palabras clave

CLPP; Perrault syndrome; deafness; developmental delay; ovarian dysgenesis

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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Disgenesia Gonadal 46 XX / Pérdida Auditiva Sensorineural Límite: Female / Humans Idioma: En Revista: Clin Genet Año: 2024 Tipo del documento: Article País de afiliación: Estados Unidos

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