RBBP8 syndrome with microcephaly, intellectual disability, short stature and brachydactyly.
Primary microcephaly is clinically variable and genetically heterogeneous. Four phenotypically distinct types of autosomal recessive microcephaly syndromes are due to different RBBP8 mutations. We report on a consanguineous Pakistani family with homozygous RBBP8 mutation c.1808_1809delTA (p.Ile603Lysfs*7) manifesting microcephaly and a distinct combination of skeletal, limb and ectodermal defects, mild intellectual disability, minor facial anomalies, anonychia, disproportionate short stature and brachydactyly, and additionally talipes in one patient.
Department of Animal Sciences, Human Genetics Program, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan.
Sara
S
Mumtaz
Department of Molecular Biology and Genetics, Boğaziçi University, Istanbul, Turkey.
Esra
E
Yıldız
Department of Animal Sciences, Human Genetics Program, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan.
Saliha
S
Jabeen
Department of Animal Sciences, Human Genetics Program, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan.
Amjad
A
Khan
Department of Molecular Biology and Genetics, Boğaziçi University, Istanbul, Turkey.
Aslıhan
A
Tolun
Department of Animal Sciences, Human Genetics Program, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan.
Sajid
S
Malik
D000293:Adolescent; D000328:Adult; D059327:Brachydactyly / Q000235:genetics* / Q000473:pathology; D002352:Carrier Proteins / Q000235:genetics*; D003241:Consanguinity; D004392:Dwarfism / Q000235:genetics* / Q000473:pathology; D004706:Endodeoxyribonucleases; D005260:Female; D006720:Homozygote; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics* / Q000473:pathology; D008297:Male; D008831:Microcephaly / Q000235:genetics* / Q000473:pathology; D009154:Mutation / Q000235:genetics*; D009687:Nuclear Proteins / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype; D011379:Prognosis; D013577:Syndrome; D055815:Young Adult
D002352:Carrier Proteins; D009687:Nuclear Proteins; D004706:Endodeoxyribonucleases; C410741:RBBP8 protein, human
Pakistani family; RBBP8; anonychia; consanguineous; inbreeding coefficient; intellectual disability; mental retardation; microcephaly; mutation; short stature