Exome analysis identified a novel missense mutation in the CLPP gene in a consanguineous Saudi family expanding the clinical spectrum of Perrault Syndrome type-3

Journal of the Neurological Sciences

Volumn 353, Issue 1-2, 2015, Pages 149-154

  Ahmed, Saleem ^a,b   Jelani, Musharraf ^a,c,d   Alrayes, Nuha ^d   Mohamoud, Hussein Sheikh Ali ^a,d   Almramhi, Mona Mohammad ^a   Anshasi, Wasim ^e   Ahmed, Naushad Ali Basheer ^e   Wang, Jun ^a,f   Nasir, Jamal ^d   Al Aama, Jumana Yousuf ^a,b  

^a KING ABDULAZIZ UNIVERSITY   (Saudi Arabia)

^b Aziz University   (Saudi Arabia)

^c KHYBER MEDICAL UNIVERSITY   (Pakistan)

^d ST GEORGE'S UNIVERSITY OF LONDON   (United Kingdom)

^e KING ABDUL AZIZ UNIVERSITY HOSPITAL   (Saudi Arabia)

^f BGI SHENZHEN   (China)

Author keywords

Brain atrophy; CLPP; Novel homozygous mutation; Perrault syndrome type 3; Saudi Arabia; Whole exome sequencing

Indexed keywords

ENDOPEPTIDASE CLP; CLPP PROTEIN, HUMAN;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BIRTH WEIGHT; BRAIN ATROPHY; BRAIN SIZE; CASE REPORT; CEREBRAL PALSY; CHILD; CHROMOSOME 19; CHROMOSOME 19P; COCHLEA PROSTHESIS; COMPUTER ASSISTED TOMOGRAPHY; COPY NUMBER VARIATION; CORPUS CALLOSUM; EVOKED AUDITORY RESPONSE; EVOKED BRAIN STEM RESPONSE; EXOME; EXON; FEMALE; GENE FREQUENCY; GENE MAPPING; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC DISORDER; GENETIC SCREENING; GESTURE; HEARING IMPAIRMENT; HETEROZYGOTE; HOMOZYGOSITY; HOMOZYGOTE; HUMAN; INFANT; INHERITANCE; LATERAL BRAIN VENTRICLE; LEUKOMALACIA; MALE; MISSENSE MUTATION; MOLECULAR DIAGNOSIS; NEUROLOGIC EXAMINATION; NUCLEAR MAGNETIC RESONANCE IMAGING; PERCEPTION DEAFNESS; PERRAULT SYNDROME TYPE 3; PHENOTYPE; PRIORITY JOURNAL; SAUDI ARABIA; SCHOOL CHILD; SINGLE NUCLEOTIDE POLYMORPHISM; SPASTICITY; VAGINAL DELIVERY; WHITE MATTER; BRAIN; CHROMOSOME ABERRATION; CONSANGUINITY; DNA MUTATIONAL ANALYSIS; EPIDEMIOLOGY; FAMILY HEALTH; GENETICS; PATHOLOGY; REPRODUCIBILITY; XX GONADAL DYSGENESIS;

BRAIN; CHILD; CHROMOSOME ABERRATIONS; CONSANGUINITY; DNA MUTATIONAL ANALYSIS; ENDOPEPTIDASE CLP; FAMILY HEALTH; FEMALE; GONADAL DYSGENESIS, 46,XX; HEARING LOSS, SENSORINEURAL; HUMANS; INFANT; MAGNETIC RESONANCE IMAGING; MALE; MUTATION, MISSENSE; PHENOTYPE; REPRODUCIBILITY OF RESULTS; SAUDI ARABIA;

EID: 84929995332     PISSN: 0022510X     EISSN: 18785883     Source Type: Journal    
DOI: 10.1016/j.jns.2015.04.038     Document Type: Article

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